Incidental Mutation 'IGL01360:Cramp1'
| ID |
75721 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cramp1
|
| Ensembl Gene |
ENSMUSG00000038002 |
| Gene Name |
cramped chromatin regulator 1 |
| Synonyms |
5830477H08Rik, Tce4, Cramp1l |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01360
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25180200-25234762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25216547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 189
(I189V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073337]
|
| AlphaFold |
Q6PG95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073337
AA Change: I189V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: I189V
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,325,648 (GRCm39) |
I1517L |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,307,537 (GRCm39) |
D1449V |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,630,643 (GRCm39) |
Y161N |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,864,482 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
T |
12: 52,565,023 (GRCm39) |
I665F |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,247,131 (GRCm39) |
V123A |
possibly damaging |
Het |
| Carm1 |
C |
T |
9: 21,498,598 (GRCm39) |
T480I |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,591,513 (GRCm39) |
V1032M |
probably damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,308,509 (GRCm39) |
I101S |
probably damaging |
Het |
| Copa |
C |
A |
1: 171,915,155 (GRCm39) |
|
probably null |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Egf |
A |
T |
3: 129,533,669 (GRCm39) |
F57Y |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Gm14178 |
A |
G |
11: 99,638,269 (GRCm39) |
S37P |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,075 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,390,981 (GRCm39) |
S3980P |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,617,670 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,881,766 (GRCm39) |
S772P |
probably damaging |
Het |
| Kcng4 |
C |
A |
8: 120,352,416 (GRCm39) |
G498V |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,381,689 (GRCm39) |
D3795A |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,584,772 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
A |
T |
10: 105,659,058 (GRCm39) |
H408Q |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,307,505 (GRCm39) |
E457G |
probably damaging |
Het |
| Mpl |
G |
A |
4: 118,312,858 (GRCm39) |
T158I |
possibly damaging |
Het |
| Mtg2 |
C |
T |
2: 179,725,870 (GRCm39) |
T160I |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,480,110 (GRCm39) |
I59V |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,831,727 (GRCm39) |
S191* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,928,190 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,871 (GRCm39) |
T50A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,847,809 (GRCm39) |
T1245S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,770 (GRCm39) |
D443G |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,797,665 (GRCm39) |
D21V |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,627,936 (GRCm39) |
H132Q |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,455,481 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
A |
T |
3: 115,783,765 (GRCm39) |
V136E |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,605,962 (GRCm39) |
V116A |
probably damaging |
Het |
| Sos2 |
A |
T |
12: 69,637,574 (GRCm39) |
S1046T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,116,554 (GRCm39) |
S899P |
possibly damaging |
Het |
| Tfr2 |
G |
A |
5: 137,569,953 (GRCm39) |
V120I |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,493 (GRCm39) |
R117* |
probably null |
Het |
| Trmt9b |
A |
G |
8: 36,979,713 (GRCm39) |
I439V |
probably benign |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,603 (GRCm39) |
M688T |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,510 (GRCm39) |
D389E |
possibly damaging |
Het |
| Zpld1 |
T |
G |
16: 55,046,748 (GRCm39) |
N407T |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 127,887,622 (GRCm39) |
W935* |
probably null |
Het |
| Zyx |
G |
A |
6: 42,327,378 (GRCm39) |
R59Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation