Incidental Mutation 'IGL02474:Cramp1l'
| ID |
294859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cramp1l
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator homolog 1 |
| Synonyms |
5830477H08Rik, Tce4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24961228-25015230 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24985050 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 318
(V318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: V318A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: V318A
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 13,818,229 |
E283G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 9,004,933 |
I1194V |
probably benign |
Het |
| Aqr |
T |
A |
2: 114,112,646 |
N1149Y |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,416,519 |
I131V |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,118,380 |
T1461P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,393,369 |
S113P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 |
R171C |
unknown |
Het |
| Csf2ra |
A |
G |
19: 61,226,537 |
V163A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 |
G219V |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,669,562 |
D439G |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,027,445 |
|
probably null |
Het |
| Dyrk4 |
C |
A |
6: 126,880,231 |
C495F |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,307,417 |
V402A |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,538 |
M643V |
possibly damaging |
Het |
| Gbp9 |
A |
T |
5: 105,094,567 |
|
probably benign |
Het |
| Ginm1 |
A |
G |
10: 7,777,768 |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,503,391 |
D282E |
probably damaging |
Het |
| Gm5799 |
T |
C |
14: 43,544,629 |
I86T |
probably damaging |
Het |
| Gm9894 |
T |
C |
13: 67,765,094 |
|
noncoding transcript |
Het |
| Gng12 |
A |
G |
6: 67,015,761 |
K4R |
probably benign |
Het |
| Hnrnpul1 |
A |
T |
7: 25,726,757 |
D556E |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,669,039 |
L1153Q |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,383,182 |
L17Q |
probably null |
Het |
| Mc5r |
T |
C |
18: 68,338,839 |
F90L |
probably damaging |
Het |
| Olfr1356 |
A |
T |
10: 78,847,063 |
M284K |
probably damaging |
Het |
| Olfr175-ps1 |
A |
T |
16: 58,824,656 |
S18T |
probably benign |
Het |
| Olfr524 |
T |
C |
7: 140,202,587 |
Y61C |
probably damaging |
Het |
| Olfr54 |
C |
A |
11: 51,027,365 |
A121D |
probably damaging |
Het |
| Olfr877 |
A |
T |
9: 37,855,360 |
I181L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,325,429 |
Y6N |
probably damaging |
Het |
| Polr2g |
C |
A |
19: 8,798,456 |
|
probably null |
Het |
| Psme3 |
A |
G |
11: 101,317,654 |
Q82R |
probably benign |
Het |
| Rab11a |
G |
T |
9: 64,726,647 |
T17K |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 156,098,097 |
L85Q |
probably damaging |
Het |
| Skap1 |
A |
T |
11: 96,708,686 |
Y188F |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,442,336 |
F34I |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,794,133 |
I98S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,878,188 |
|
probably benign |
Het |
| Ube2t |
A |
T |
1: 134,971,341 |
K21* |
probably null |
Het |
| Vmn1r216 |
T |
C |
13: 23,099,477 |
V110A |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,540,888 |
F736I |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,937,876 |
T2081A |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,576,098 |
A493T |
probably benign |
Het |
|
| Other mutations in Cramp1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Cramp1l
|
APN |
17 |
24,983,951 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL01360:Cramp1l
|
APN |
17 |
24,997,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01966:Cramp1l
|
APN |
17 |
24,982,943 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02211:Cramp1l
|
APN |
17 |
24,977,636 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02798:Cramp1l
|
APN |
17 |
24,968,920 (GRCm38) |
splice site |
probably benign |
|
|
IGL03340:Cramp1l
|
APN |
17 |
24,973,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Interred
|
UTSW |
17 |
24,983,982 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0106:Cramp1l
|
UTSW |
17 |
24,972,376 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1054:Cramp1l
|
UTSW |
17 |
24,983,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1220:Cramp1l
|
UTSW |
17 |
24,982,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1341:Cramp1l
|
UTSW |
17 |
24,977,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1491:Cramp1l
|
UTSW |
17 |
24,972,349 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1610:Cramp1l
|
UTSW |
17 |
24,983,951 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1649:Cramp1l
|
UTSW |
17 |
24,983,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1795:Cramp1l
|
UTSW |
17 |
24,964,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1856:Cramp1l
|
UTSW |
17 |
24,968,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1881:Cramp1l
|
UTSW |
17 |
24,977,682 (GRCm38) |
splice site |
probably benign |
|
|
R1968:Cramp1l
|
UTSW |
17 |
24,964,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2047:Cramp1l
|
UTSW |
17 |
25,003,215 (GRCm38) |
nonsense |
probably null |
|
|
R2099:Cramp1l
|
UTSW |
17 |
24,973,085 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2298:Cramp1l
|
UTSW |
17 |
24,997,480 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3752:Cramp1l
|
UTSW |
17 |
24,971,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3821:Cramp1l
|
UTSW |
17 |
24,974,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3861:Cramp1l
|
UTSW |
17 |
24,997,614 (GRCm38) |
splice site |
probably benign |
|
|
R4399:Cramp1l
|
UTSW |
17 |
24,979,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4847:Cramp1l
|
UTSW |
17 |
24,985,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4883:Cramp1l
|
UTSW |
17 |
24,982,319 (GRCm38) |
missense |
probably benign |
|
|
R5579:Cramp1l
|
UTSW |
17 |
24,973,113 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5631:Cramp1l
|
UTSW |
17 |
24,985,603 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5716:Cramp1l
|
UTSW |
17 |
24,974,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6589:Cramp1l
|
UTSW |
17 |
24,977,492 (GRCm38) |
splice site |
probably null |
|
|
R6631:Cramp1l
|
UTSW |
17 |
24,983,957 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7307:Cramp1l
|
UTSW |
17 |
24,974,745 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7323:Cramp1l
|
UTSW |
17 |
24,982,405 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7672:Cramp1l
|
UTSW |
17 |
24,982,466 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7832:Cramp1l
|
UTSW |
17 |
24,983,222 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8071:Cramp1l
|
UTSW |
17 |
24,982,700 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8244:Cramp1l
|
UTSW |
17 |
24,971,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8430:Cramp1l
|
UTSW |
17 |
24,977,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8783:Cramp1l
|
UTSW |
17 |
24,974,758 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8890:Cramp1l
|
UTSW |
17 |
24,983,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8892:Cramp1l
|
UTSW |
17 |
24,983,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8894:Cramp1l
|
UTSW |
17 |
24,983,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8937:Cramp1l
|
UTSW |
17 |
24,983,982 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8941:Cramp1l
|
UTSW |
17 |
24,983,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9029:Cramp1l
|
UTSW |
17 |
25,013,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9047:Cramp1l
|
UTSW |
17 |
24,979,629 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9149:Cramp1l
|
UTSW |
17 |
24,968,946 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9262:Cramp1l
|
UTSW |
17 |
25,013,946 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9460:Cramp1l
|
UTSW |
17 |
25,003,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9614:Cramp1l
|
UTSW |
17 |
24,982,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9615:Cramp1l
|
UTSW |
17 |
24,982,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9651:Cramp1l
|
UTSW |
17 |
24,982,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9652:Cramp1l
|
UTSW |
17 |
24,982,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9653:Cramp1l
|
UTSW |
17 |
24,982,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9665:Cramp1l
|
UTSW |
17 |
24,977,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9753:Cramp1l
|
UTSW |
17 |
24,972,346 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2015-04-16 |
Incidental Mutation