Incidental Mutation 'R6631:Cramp1'
| ID |
525174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
044753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25202931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 366
(H366L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073337
AA Change: H366L
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: H366L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
|
SANT
|
159 |
219 |
3.68e-3 |
SMART |
|
low complexity region
|
479 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
903 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1171 |
1185 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
T |
9: 15,203,326 (GRCm39) |
N159K |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,245,058 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,861,107 (GRCm39) |
D4G |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,843,618 (GRCm39) |
S153G |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,747 (GRCm39) |
D877N |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,519,405 (GRCm39) |
A257V |
probably benign |
Het |
| Cyp2c37 |
C |
T |
19: 39,998,287 (GRCm39) |
S393L |
probably damaging |
Het |
| Defb8 |
T |
A |
8: 19,495,950 (GRCm39) |
I37L |
probably benign |
Het |
| Dennd4b |
C |
A |
3: 90,185,039 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
G |
A |
7: 140,936,115 (GRCm39) |
R223H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,961,400 (GRCm39) |
L1302P |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,021,993 (GRCm39) |
W37R |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,333,725 (GRCm39) |
N668S |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,565,107 (GRCm39) |
N250S |
probably damaging |
Het |
| H2bc12 |
T |
A |
13: 22,220,391 (GRCm39) |
V112E |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,956 (GRCm39) |
P732Q |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,144,712 (GRCm39) |
L332* |
probably null |
Het |
| Kctd19 |
A |
G |
8: 106,111,960 (GRCm39) |
|
probably null |
Het |
| Kif14 |
G |
A |
1: 136,443,697 (GRCm39) |
S1290N |
probably benign |
Het |
| Klk1b3 |
C |
T |
7: 43,850,888 (GRCm39) |
T140I |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,081,477 (GRCm39) |
N1305D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,813,440 (GRCm39) |
|
probably null |
Het |
| Mocos |
A |
G |
18: 24,832,988 (GRCm39) |
T818A |
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,081 (GRCm39) |
W94L |
probably benign |
Het |
| Mrc1 |
G |
A |
2: 14,243,296 (GRCm39) |
V141I |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,697,663 (GRCm39) |
T538A |
probably benign |
Het |
| Ndufs3 |
G |
A |
2: 90,732,744 (GRCm39) |
T114M |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,621 (GRCm39) |
C320R |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,185 (GRCm39) |
Q232L |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,138,844 (GRCm39) |
A158S |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,109 (GRCm39) |
D388E |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,712,069 (GRCm39) |
E1051G |
possibly damaging |
Het |
| Phlda2 |
T |
A |
7: 143,055,918 (GRCm39) |
I104F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Pomt2 |
C |
T |
12: 87,186,417 (GRCm39) |
|
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
T |
G |
4: 142,861,454 (GRCm39) |
Q612P |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,586,978 (GRCm39) |
R243S |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,233 (GRCm39) |
I250T |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,590,739 (GRCm39) |
C462* |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,329,969 (GRCm39) |
E682V |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,725 (GRCm39) |
D210G |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,748 (GRCm39) |
D326E |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,209,374 (GRCm39) |
E829G |
probably damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,995 (GRCm39) |
W319* |
probably null |
Het |
| Taar8c |
A |
G |
10: 23,977,701 (GRCm39) |
V37A |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,184,654 (GRCm39) |
Y753F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,222 (GRCm39) |
S3770G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,708,460 (GRCm39) |
N48S |
possibly damaging |
Het |
| Zfp558 |
C |
A |
9: 18,368,219 (GRCm39) |
G190* |
probably null |
Het |
|
| Other mutations in Cramp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Cramp1
|
APN |
17 |
25,202,925 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01360:Cramp1
|
APN |
17 |
25,216,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Cramp1
|
APN |
17 |
25,201,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02211:Cramp1
|
APN |
17 |
25,196,610 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02474:Cramp1
|
APN |
17 |
25,204,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02798:Cramp1
|
APN |
17 |
25,187,894 (GRCm39) |
splice site |
probably benign |
|
|
IGL03340:Cramp1
|
APN |
17 |
25,192,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Interred
|
UTSW |
17 |
25,202,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0106:Cramp1
|
UTSW |
17 |
25,191,350 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1054:Cramp1
|
UTSW |
17 |
25,202,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1220:Cramp1
|
UTSW |
17 |
25,201,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Cramp1
|
UTSW |
17 |
25,196,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Cramp1
|
UTSW |
17 |
25,191,323 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1610:Cramp1
|
UTSW |
17 |
25,202,925 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1649:Cramp1
|
UTSW |
17 |
25,202,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Cramp1
|
UTSW |
17 |
25,183,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Cramp1
|
UTSW |
17 |
25,187,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cramp1
|
UTSW |
17 |
25,196,656 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Cramp1
|
UTSW |
17 |
25,183,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Cramp1
|
UTSW |
17 |
25,222,189 (GRCm39) |
nonsense |
probably null |
|
|
R2099:Cramp1
|
UTSW |
17 |
25,192,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2298:Cramp1
|
UTSW |
17 |
25,216,454 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3752:Cramp1
|
UTSW |
17 |
25,190,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Cramp1
|
UTSW |
17 |
25,193,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Cramp1
|
UTSW |
17 |
25,216,588 (GRCm39) |
splice site |
probably benign |
|
|
R4399:Cramp1
|
UTSW |
17 |
25,198,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Cramp1
|
UTSW |
17 |
25,204,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Cramp1
|
UTSW |
17 |
25,201,293 (GRCm39) |
missense |
probably benign |
|
|
R5579:Cramp1
|
UTSW |
17 |
25,192,087 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5631:Cramp1
|
UTSW |
17 |
25,204,577 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5716:Cramp1
|
UTSW |
17 |
25,193,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6589:Cramp1
|
UTSW |
17 |
25,196,466 (GRCm39) |
splice site |
probably null |
|
|
R7307:Cramp1
|
UTSW |
17 |
25,193,719 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7323:Cramp1
|
UTSW |
17 |
25,201,379 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7672:Cramp1
|
UTSW |
17 |
25,201,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7832:Cramp1
|
UTSW |
17 |
25,202,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8071:Cramp1
|
UTSW |
17 |
25,201,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8244:Cramp1
|
UTSW |
17 |
25,190,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8430:Cramp1
|
UTSW |
17 |
25,196,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Cramp1
|
UTSW |
17 |
25,193,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8890:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Cramp1
|
UTSW |
17 |
25,202,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8941:Cramp1
|
UTSW |
17 |
25,202,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Cramp1
|
UTSW |
17 |
25,232,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Cramp1
|
UTSW |
17 |
25,198,603 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9149:Cramp1
|
UTSW |
17 |
25,187,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9262:Cramp1
|
UTSW |
17 |
25,232,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9460:Cramp1
|
UTSW |
17 |
25,222,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Cramp1
|
UTSW |
17 |
25,201,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Cramp1
|
UTSW |
17 |
25,196,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Cramp1
|
UTSW |
17 |
25,191,320 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACTCAAAACGTGGAG -3'
(R):5'- AGCTGAATATGCTATAGATCCCC -3'
Sequencing Primer
(F):5'- ACTGAGTACGATCAAGTAGTGC -3'
(R):5'- GAATATGCTATAGATCCCCCTTCCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation