Incidental Mutation 'R3752:Cramp1'
| ID |
271280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
040737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25190532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1067
(N1067K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: N1067K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: N1067K
| 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 |
|
| Meta Mutation Damage Score |
0.1024 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,588,904 (GRCm39) |
I107N |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,994,555 (GRCm39) |
V292I |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,610,061 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,458,215 (GRCm39) |
P1120S |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,702,281 (GRCm39) |
T90A |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Eml6 |
C |
A |
11: 29,759,360 (GRCm39) |
V798F |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,939,306 (GRCm39) |
V581E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,038,622 (GRCm39) |
R833Q |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Gm10521 |
A |
G |
1: 171,723,712 (GRCm39) |
T8A |
unknown |
Het |
| Hapln4 |
A |
T |
8: 70,539,615 (GRCm39) |
L215F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,799,624 (GRCm39) |
I157V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,640,086 (GRCm39) |
C1700S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,829,015 (GRCm39) |
C2042Y |
probably damaging |
Het |
| Lrrc9 |
T |
G |
12: 72,507,580 (GRCm39) |
Y360* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,156,821 (GRCm39) |
A76V |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,970,383 (GRCm39) |
T428M |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,284,167 (GRCm39) |
K126N |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,776,307 (GRCm39) |
L249F |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,057 (GRCm39) |
I210V |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,682 (GRCm39) |
Y128* |
probably null |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,810 (GRCm39) |
V14E |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,403 (GRCm39) |
I316L |
probably benign |
Het |
| Plxnb2 |
G |
A |
15: 89,041,458 (GRCm39) |
|
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,007,841 (GRCm39) |
T227S |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,461,121 (GRCm39) |
Y477F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,263,551 (GRCm39) |
V722E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,067,959 (GRCm39) |
V565A |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,700,096 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
C |
T |
11: 61,235,207 (GRCm39) |
R542Q |
possibly damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,586,062 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
C |
A |
2: 167,299,272 (GRCm39) |
H215N |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,635,406 (GRCm39) |
|
probably null |
Het |
| Snx1 |
A |
T |
9: 66,012,933 (GRCm39) |
|
probably null |
Het |
| Tbc1d30 |
T |
A |
10: 121,108,073 (GRCm39) |
N443I |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,443 (GRCm39) |
M565K |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,639 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,215,731 (GRCm39) |
E243K |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,001,460 (GRCm39) |
S453P |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,249 (GRCm39) |
V766A |
probably benign |
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 |
|
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 |
|
|
R6631:Cramp1
|
UTSW |
17 |
25,202,931 (GRCm39) |
missense |
probably benign |
0.40 |
|
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'- CCATTTCAGTGAGAGCCTAGG -3'
(R):5'- TGGGAGAATGGTGAATCCCTG -3'
Sequencing Primer
(F):5'- AAGGTTTCCAAGGCCATCTG -3'
(R):5'- GAGAATGGTGAATCCCTGCATTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation