Incidental Mutation 'R8679:Crebbp'
| ID |
661632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crebbp
|
| Ensembl Gene |
ENSMUSG00000022521 |
| Gene Name |
CREB binding protein |
| Synonyms |
CBP, KAT3A |
| MMRRC Submission |
068534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3899198-4031864 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3902322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2306
(S2306P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023165]
[ENSMUST00000205765]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023165
AA Change: S2306P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: S2306P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
ZnF_TAZ
|
347 |
432 |
2.31e-32 |
SMART |
|
low complexity region
|
494 |
516 |
N/A |
INTRINSIC |
|
Pfam:KIX
|
586 |
666 |
1.4e-42 |
PFAM |
|
low complexity region
|
874 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1065 |
N/A |
INTRINSIC |
|
BROMO
|
1085 |
1195 |
4.26e-43 |
SMART |
|
Blast:KAT11
|
1265 |
1308 |
3e-15 |
BLAST |
|
KAT11
|
1343 |
1649 |
4.25e-137 |
SMART |
|
ZnF_ZZ
|
1702 |
1743 |
2.17e-15 |
SMART |
|
ZnF_TAZ
|
1767 |
1845 |
6.8e-30 |
SMART |
|
low complexity region
|
1847 |
1877 |
N/A |
INTRINSIC |
|
low complexity region
|
1884 |
1914 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1971 |
N/A |
INTRINSIC |
|
Pfam:Creb_binding
|
2019 |
2115 |
8.2e-38 |
PFAM |
|
low complexity region
|
2147 |
2161 |
N/A |
INTRINSIC |
|
low complexity region
|
2197 |
2216 |
N/A |
INTRINSIC |
|
low complexity region
|
2260 |
2279 |
N/A |
INTRINSIC |
|
low complexity region
|
2286 |
2304 |
N/A |
INTRINSIC |
|
low complexity region
|
2343 |
2378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205765
AA Change: S2268P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206464
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
98% (91/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,152,479 (GRCm39) |
T1356A |
possibly damaging |
Het |
| Ace3 |
A |
G |
11: 105,886,701 (GRCm39) |
T154A |
probably benign |
Het |
| Arhgap31 |
C |
A |
16: 38,422,966 (GRCm39) |
Q1033H |
probably damaging |
Het |
| C1qtnf1 |
C |
T |
11: 118,337,340 (GRCm39) |
R57* |
probably null |
Het |
| Cacna1g |
T |
C |
11: 94,319,962 (GRCm39) |
T1405A |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,260,011 (GRCm39) |
|
probably benign |
Het |
| Cdca4 |
T |
A |
12: 112,785,734 (GRCm39) |
|
probably null |
Het |
| Cpa4 |
T |
A |
6: 30,585,158 (GRCm39) |
M314K |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,078,085 (GRCm39) |
S539T |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,488,163 (GRCm39) |
R9G |
|
Het |
| Dcaf5 |
T |
C |
12: 80,385,807 (GRCm39) |
H773R |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,311,406 (GRCm39) |
D194E |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 30,989,767 (GRCm39) |
R3250S |
possibly damaging |
Het |
| Dnajc25 |
A |
C |
4: 59,020,195 (GRCm39) |
K206T |
possibly damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,146,325 (GRCm39) |
L118P |
possibly damaging |
Het |
| Etl4 |
C |
T |
2: 20,714,288 (GRCm39) |
T129I |
probably damaging |
Het |
| Faap100 |
A |
G |
11: 120,263,003 (GRCm39) |
I785T |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,830,928 (GRCm39) |
D425E |
probably benign |
Het |
| Fat4 |
C |
G |
3: 39,064,842 (GRCm39) |
L4933V |
probably damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,526,086 (GRCm39) |
F39L |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,769 (GRCm39) |
V102A |
probably benign |
Het |
| Gabra2 |
T |
C |
5: 71,170,040 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
C |
A |
2: 32,916,106 (GRCm39) |
R346L |
probably damaging |
Het |
| Grin2a |
A |
T |
16: 9,403,089 (GRCm39) |
I799N |
possibly damaging |
Het |
| Hspa4 |
A |
G |
11: 53,160,691 (GRCm39) |
F462L |
probably damaging |
Het |
| Iars1 |
C |
A |
13: 49,856,675 (GRCm39) |
|
probably benign |
Het |
| Igkv6-32 |
C |
T |
6: 70,051,063 (GRCm39) |
V98M |
possibly damaging |
Het |
| Il31ra |
A |
G |
13: 112,662,372 (GRCm39) |
F560S |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,116,049 (GRCm39) |
T299I |
probably damaging |
Het |
| Leo1 |
T |
A |
9: 75,373,544 (GRCm39) |
Y656* |
probably null |
Het |
| Lpcat2 |
T |
A |
8: 93,635,864 (GRCm39) |
V422D |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,084 (GRCm39) |
S39T |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,405,869 (GRCm39) |
S341T |
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,540,879 (GRCm39) |
Y138F |
probably damaging |
Het |
| Mepe |
A |
G |
5: 104,485,754 (GRCm39) |
N298S |
possibly damaging |
Het |
| Mmp15 |
C |
A |
8: 96,092,982 (GRCm39) |
N120K |
possibly damaging |
Het |
| Mrps9 |
A |
G |
1: 42,918,915 (GRCm39) |
R106G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,557,744 (GRCm39) |
M2850L |
unknown |
Het |
| Mxra8 |
T |
A |
4: 155,927,122 (GRCm39) |
I352N |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,411,042 (GRCm39) |
V167I |
unknown |
Het |
| Neb |
T |
C |
2: 52,215,051 (GRCm39) |
D209G |
probably damaging |
Het |
| Nlgn2 |
A |
G |
11: 69,716,309 (GRCm39) |
V744A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,029,218 (GRCm39) |
|
probably null |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Or14c42-ps1 |
A |
T |
7: 86,211,147 (GRCm39) |
H69L |
unknown |
Het |
| Or5ak20 |
T |
C |
2: 85,183,953 (GRCm39) |
T106A |
probably benign |
Het |
| Or5k16 |
G |
A |
16: 58,736,843 (GRCm39) |
R54C |
probably benign |
Het |
| Or9k2b |
T |
C |
10: 130,016,702 (GRCm39) |
I16V |
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,248 (GRCm39) |
|
probably null |
Het |
| Piwil4 |
T |
C |
9: 14,616,322 (GRCm39) |
D15G |
|
Het |
| Plcz1 |
C |
A |
6: 139,949,612 (GRCm39) |
W461L |
probably damaging |
Het |
| Plek |
A |
T |
11: 16,944,676 (GRCm39) |
I118N |
probably damaging |
Het |
| Poc1b |
C |
A |
10: 99,000,728 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,059,567 (GRCm39) |
M64K |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,532,635 (GRCm39) |
T739A |
possibly damaging |
Het |
| Psme2 |
A |
T |
14: 55,827,074 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
G |
10: 116,203,495 (GRCm39) |
V1802G |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,034,848 (GRCm39) |
Y84* |
probably null |
Het |
| Rbbp6 |
T |
G |
7: 122,600,516 (GRCm39) |
S1508A |
unknown |
Het |
| Rel |
A |
T |
11: 23,692,430 (GRCm39) |
D534E |
probably benign |
Het |
| Rpgrip1 |
G |
A |
14: 52,396,852 (GRCm39) |
S1258N |
probably damaging |
Het |
| Rprml |
T |
C |
11: 103,540,953 (GRCm39) |
L116P |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,887,112 (GRCm39) |
T323A |
possibly damaging |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,099 (GRCm39) |
H177R |
probably damaging |
Het |
| Sag |
A |
G |
1: 87,738,032 (GRCm39) |
T24A |
probably benign |
Het |
| Scgb2b26 |
G |
T |
7: 33,643,784 (GRCm39) |
T52N |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,501,194 (GRCm39) |
I197V |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,742,927 (GRCm39) |
V1003D |
possibly damaging |
Het |
| Sirt2 |
G |
A |
7: 28,471,261 (GRCm39) |
G30E |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,149,919 (GRCm39) |
Q197L |
probably benign |
Het |
| Slc44a3 |
A |
T |
3: 121,283,918 (GRCm39) |
S445T |
probably damaging |
Het |
| Slc7a7 |
A |
T |
14: 54,610,449 (GRCm39) |
V399E |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
| Sorcs2 |
G |
T |
5: 36,196,657 (GRCm39) |
Q663K |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,118,991 (GRCm39) |
R345G |
probably null |
Het |
| Sycp2 |
G |
A |
2: 177,992,768 (GRCm39) |
R1261C |
probably damaging |
Het |
| Tcf19 |
T |
C |
17: 35,825,381 (GRCm39) |
I259V |
probably benign |
Het |
| Thada |
T |
A |
17: 84,536,637 (GRCm39) |
R1636S |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,604,961 (GRCm39) |
L32P |
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,517,076 (GRCm39) |
T881I |
probably benign |
Het |
| Tonsl |
A |
C |
15: 76,518,263 (GRCm39) |
C570G |
probably damaging |
Het |
| Ube2o |
C |
A |
11: 116,432,273 (GRCm39) |
E898* |
probably null |
Het |
| Usp5 |
T |
C |
6: 124,794,394 (GRCm39) |
H762R |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,779 (GRCm39) |
S642P |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,690,431 (GRCm39) |
W436R |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,811,977 (GRCm39) |
I3343M |
|
Het |
| Wbp11 |
T |
C |
6: 136,799,932 (GRCm39) |
K83E |
probably damaging |
Het |
| Zfp26 |
T |
A |
9: 20,356,201 (GRCm39) |
N36Y |
possibly damaging |
Het |
| Zfp57 |
T |
A |
17: 37,320,938 (GRCm39) |
I264N |
probably damaging |
Het |
|
| Other mutations in Crebbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Crebbp
|
APN |
16 |
3,997,416 (GRCm39) |
missense |
probably benign |
|
|
IGL01366:Crebbp
|
APN |
16 |
3,944,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01457:Crebbp
|
APN |
16 |
3,942,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01713:Crebbp
|
APN |
16 |
3,946,512 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02382:Crebbp
|
APN |
16 |
3,925,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02513:Crebbp
|
APN |
16 |
3,944,469 (GRCm39) |
splice site |
probably null |
|
|
IGL02519:Crebbp
|
APN |
16 |
3,919,457 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02533:Crebbp
|
APN |
16 |
3,925,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Crebbp
|
APN |
16 |
3,902,141 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02600:Crebbp
|
APN |
16 |
3,972,882 (GRCm39) |
missense |
probably benign |
|
|
IGL02716:Crebbp
|
APN |
16 |
3,932,742 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02736:Crebbp
|
APN |
16 |
3,972,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03349:Crebbp
|
APN |
16 |
3,935,222 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
enchanting
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Intriguing
|
UTSW |
16 |
3,997,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Rivetting
|
UTSW |
16 |
3,909,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stunning
|
UTSW |
16 |
3,909,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Suggestive
|
UTSW |
16 |
3,925,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Crebbp
|
UTSW |
16 |
3,932,689 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0022:Crebbp
|
UTSW |
16 |
3,903,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Crebbp
|
UTSW |
16 |
3,935,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Crebbp
|
UTSW |
16 |
3,909,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Crebbp
|
UTSW |
16 |
3,909,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Crebbp
|
UTSW |
16 |
3,935,105 (GRCm39) |
splice site |
probably benign |
|
|
R0126:Crebbp
|
UTSW |
16 |
3,901,927 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0140:Crebbp
|
UTSW |
16 |
3,935,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Crebbp
|
UTSW |
16 |
3,903,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0705:Crebbp
|
UTSW |
16 |
3,972,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0801:Crebbp
|
UTSW |
16 |
3,906,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Crebbp
|
UTSW |
16 |
3,901,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1225:Crebbp
|
UTSW |
16 |
3,944,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1421:Crebbp
|
UTSW |
16 |
3,942,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Crebbp
|
UTSW |
16 |
3,933,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Crebbp
|
UTSW |
16 |
3,902,381 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1860:Crebbp
|
UTSW |
16 |
3,905,600 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1941:Crebbp
|
UTSW |
16 |
3,997,555 (GRCm39) |
missense |
probably benign |
|
|
R1953:Crebbp
|
UTSW |
16 |
3,997,313 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1992:Crebbp
|
UTSW |
16 |
3,946,561 (GRCm39) |
splice site |
probably null |
|
|
R2000:Crebbp
|
UTSW |
16 |
3,902,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2006:Crebbp
|
UTSW |
16 |
3,902,617 (GRCm39) |
unclassified |
probably benign |
|
|
R2022:Crebbp
|
UTSW |
16 |
3,903,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Crebbp
|
UTSW |
16 |
3,902,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2185:Crebbp
|
UTSW |
16 |
3,902,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2203:Crebbp
|
UTSW |
16 |
3,956,641 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2349:Crebbp
|
UTSW |
16 |
3,956,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2430:Crebbp
|
UTSW |
16 |
3,914,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Crebbp
|
UTSW |
16 |
3,972,722 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2842:Crebbp
|
UTSW |
16 |
3,927,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Crebbp
|
UTSW |
16 |
3,956,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Crebbp
|
UTSW |
16 |
3,936,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3118:Crebbp
|
UTSW |
16 |
3,927,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Crebbp
|
UTSW |
16 |
3,913,966 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4177:Crebbp
|
UTSW |
16 |
3,937,663 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4692:Crebbp
|
UTSW |
16 |
3,932,727 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4790:Crebbp
|
UTSW |
16 |
3,997,983 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4884:Crebbp
|
UTSW |
16 |
3,906,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Crebbp
|
UTSW |
16 |
3,935,231 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5109:Crebbp
|
UTSW |
16 |
3,906,295 (GRCm39) |
intron |
probably benign |
|
|
R5121:Crebbp
|
UTSW |
16 |
3,911,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Crebbp
|
UTSW |
16 |
3,925,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Crebbp
|
UTSW |
16 |
3,903,831 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5485:Crebbp
|
UTSW |
16 |
3,932,777 (GRCm39) |
missense |
probably benign |
|
|
R5660:Crebbp
|
UTSW |
16 |
3,972,722 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5724:Crebbp
|
UTSW |
16 |
3,905,499 (GRCm39) |
unclassified |
probably benign |
|
|
R5771:Crebbp
|
UTSW |
16 |
3,937,636 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5825:Crebbp
|
UTSW |
16 |
3,905,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Crebbp
|
UTSW |
16 |
3,925,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Crebbp
|
UTSW |
16 |
3,905,525 (GRCm39) |
unclassified |
probably benign |
|
|
R6021:Crebbp
|
UTSW |
16 |
3,903,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Crebbp
|
UTSW |
16 |
3,902,487 (GRCm39) |
nonsense |
probably null |
|
|
R6521:Crebbp
|
UTSW |
16 |
3,936,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6571:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6617:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6618:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6634:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6646:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6647:Crebbp
|
UTSW |
16 |
3,937,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6766:Crebbp
|
UTSW |
16 |
3,935,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6836:Crebbp
|
UTSW |
16 |
3,997,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7022:Crebbp
|
UTSW |
16 |
3,935,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7210:Crebbp
|
UTSW |
16 |
3,902,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7568:Crebbp
|
UTSW |
16 |
3,944,353 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7672:Crebbp
|
UTSW |
16 |
3,902,574 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8145:Crebbp
|
UTSW |
16 |
3,946,389 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8152:Crebbp
|
UTSW |
16 |
3,902,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8374:Crebbp
|
UTSW |
16 |
3,902,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8392:Crebbp
|
UTSW |
16 |
3,902,145 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8738:Crebbp
|
UTSW |
16 |
3,936,952 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8756:Crebbp
|
UTSW |
16 |
3,903,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8847:Crebbp
|
UTSW |
16 |
3,902,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8950:Crebbp
|
UTSW |
16 |
4,031,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8958:Crebbp
|
UTSW |
16 |
4,031,172 (GRCm39) |
start gained |
probably benign |
|
|
R8964:Crebbp
|
UTSW |
16 |
3,909,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Crebbp
|
UTSW |
16 |
3,925,935 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9069:Crebbp
|
UTSW |
16 |
3,903,187 (GRCm39) |
missense |
probably benign |
|
|
R9155:Crebbp
|
UTSW |
16 |
3,914,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Crebbp
|
UTSW |
16 |
3,917,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9414:Crebbp
|
UTSW |
16 |
3,925,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Crebbp
|
UTSW |
16 |
3,911,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9549:Crebbp
|
UTSW |
16 |
3,903,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9663:Crebbp
|
UTSW |
16 |
3,933,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0012:Crebbp
|
UTSW |
16 |
3,905,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCTGGGGTGAAACATGG -3'
(R):5'- ACAACAAAATAGTGCCAGCTTG -3'
Sequencing Primer
(F):5'- AACATGGTGTGGTGAAGGCTG -3'
(R):5'- AGGTTATGCCCCAGCCATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation