Incidental Mutation 'R1054:Cramp1'
| ID |
94228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| MMRRC Submission |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25202151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 444
(I444F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: I444F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: I444F
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Dhx32 |
T |
A |
7: 133,327,001 (GRCm39) |
K360M |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,799,602 (GRCm39) |
C669S |
possibly damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,954,530 (GRCm39) |
H535Q |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,533 (GRCm39) |
S407T |
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 |
|
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 |
|
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'- TTCTCAAGGTGTGGTCCAGAGTCC -3'
(R):5'- TTCAAGCACAGTGCAGACCCAG -3'
Sequencing Primer
(F):5'- AGAGTCCTGGAGCCCATGAG -3'
(R):5'- CCCAGGAGAAGGTGGCATTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation