Incidental Mutation 'R8890:Cramp1'
ID |
677655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cramp1
|
Ensembl Gene |
ENSMUSG00000038002 |
Gene Name |
cramped chromatin regulator 1 |
Synonyms |
5830477H08Rik, Tce4, Cramp1l |
MMRRC Submission |
068694-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8890 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25202114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 456
(G456D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
AlphaFold |
Q6PG95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: G456D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073060 Gene: ENSMUSG00000038002 AA Change: G456D
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 |
0.1569 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
A |
X: 69,437,994 (GRCm39) |
R100W |
possibly damaging |
Het |
Acrv1 |
A |
T |
9: 36,604,608 (GRCm39) |
M1L |
probably benign |
Het |
Adam23 |
G |
A |
1: 63,624,524 (GRCm39) |
G784D |
possibly damaging |
Het |
Astl |
A |
T |
2: 127,198,479 (GRCm39) |
M365L |
probably benign |
Het |
C1ql3 |
T |
A |
2: 13,015,184 (GRCm39) |
T159S |
|
Het |
Ccser2 |
T |
G |
14: 36,601,352 (GRCm39) |
D344A |
probably damaging |
Het |
Cox11 |
A |
C |
11: 90,534,599 (GRCm39) |
I214L |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,185,502 (GRCm39) |
Y213F |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,522,555 (GRCm39) |
I340F |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,829,349 (GRCm39) |
F664L |
probably damaging |
Het |
Eif3j2 |
A |
G |
18: 43,610,276 (GRCm39) |
L179P |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,656,902 (GRCm39) |
M84K |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,358,436 (GRCm39) |
V58A |
probably benign |
Het |
Gabra1 |
T |
A |
11: 42,024,553 (GRCm39) |
Y374F |
probably benign |
Het |
Glt28d2 |
A |
T |
3: 85,779,359 (GRCm39) |
V38D |
possibly damaging |
Het |
Grid2 |
A |
T |
6: 63,233,923 (GRCm39) |
H28L |
probably benign |
Het |
Hat1 |
G |
A |
2: 71,269,137 (GRCm39) |
R355K |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,953,657 (GRCm39) |
Y658H |
possibly damaging |
Het |
Hsh2d |
T |
C |
8: 72,951,690 (GRCm39) |
F108S |
probably damaging |
Het |
Il17rc |
G |
T |
6: 113,456,031 (GRCm39) |
C292F |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,660,861 (GRCm39) |
D576G |
possibly damaging |
Het |
Iqsec3 |
T |
C |
6: 121,389,515 (GRCm39) |
D652G |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,366,624 (GRCm39) |
S420R |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,272,888 (GRCm39) |
T599A |
probably benign |
Het |
Lrrc8c |
A |
T |
5: 105,754,954 (GRCm39) |
E243V |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,006,882 (GRCm39) |
S714P |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
Mipep |
G |
T |
14: 61,109,506 (GRCm39) |
A628S |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mterf3 |
C |
T |
13: 67,064,676 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
A |
16: 48,959,130 (GRCm39) |
L1001I |
probably damaging |
Het |
Myom3 |
G |
A |
4: 135,541,565 (GRCm39) |
M1385I |
probably benign |
Het |
Nbea |
T |
C |
3: 55,926,784 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
C |
T |
7: 30,162,080 (GRCm39) |
R270W |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
Or10ag60 |
A |
T |
2: 87,438,412 (GRCm39) |
I227F |
probably damaging |
Het |
Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
Or52ae9 |
G |
T |
7: 103,389,675 (GRCm39) |
F257L |
probably damaging |
Het |
Or52r1 |
A |
T |
7: 102,536,699 (GRCm39) |
Y220* |
probably null |
Het |
Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
Pheta2 |
G |
T |
15: 82,227,618 (GRCm39) |
V46F |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,216,330 (GRCm39) |
R1394G |
|
Het |
Pramel28 |
G |
T |
4: 143,691,494 (GRCm39) |
Q410K |
probably benign |
Het |
Psmd1 |
G |
A |
1: 86,012,914 (GRCm39) |
R361Q |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,411,246 (GRCm39) |
T31M |
probably damaging |
Het |
Rassf4 |
T |
A |
6: 116,617,305 (GRCm39) |
K233N |
probably damaging |
Het |
Rif1 |
T |
C |
2: 51,988,875 (GRCm39) |
F756S |
probably damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,382,501 (GRCm39) |
D556N |
possibly damaging |
Het |
Scai |
T |
C |
2: 39,040,400 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,474,678 (GRCm39) |
T478A |
probably benign |
Het |
Spag17 |
T |
A |
3: 99,911,994 (GRCm39) |
I288N |
possibly damaging |
Het |
Sult1e1 |
C |
T |
5: 87,727,719 (GRCm39) |
V188I |
probably benign |
Het |
Tmco1 |
A |
G |
1: 167,143,814 (GRCm39) |
R82G |
|
Het |
Tmem109 |
T |
C |
19: 10,849,235 (GRCm39) |
S207G |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,578,497 (GRCm39) |
T657A |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,243,640 (GRCm39) |
T621A |
probably benign |
Het |
Zbtb40 |
A |
G |
4: 136,725,897 (GRCm39) |
L554P |
probably damaging |
Het |
Zfp131 |
A |
T |
13: 120,244,338 (GRCm39) |
M114K |
probably damaging |
Het |
Zfp532 |
C |
T |
18: 65,757,404 (GRCm39) |
P446S |
probably damaging |
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 |
|
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 |
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'- ACAGGGGTCTTCTCAAGGTGTG -3'
(R):5'- AGAAGGTGGCATTGCACCTG -3'
Sequencing Primer
(F):5'- CTCAAGGTGTGGTCCAGAGTC -3'
(R):5'- TGTTCCCAGGCGAGAACTG -3'
|
Posted On |
2021-08-02 |