Incidental Mutation 'IGL02622:Cemip'
| ID |
300921 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cemip
|
| Ensembl Gene |
ENSMUSG00000052353 |
| Gene Name |
cell migration inducing protein, hyaluronan binding |
| Synonyms |
12H19.01.T7, 6330404C01Rik, 9930013L23Rik, Hybid |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02622
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83613383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 605
(G605V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: G605V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: G605V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
G8
|
44 |
166 |
9.01e-42 |
SMART |
|
Pfam:ILEI
|
187 |
281 |
2.1e-28 |
PFAM |
|
Pfam:Mucin2_WxxW
|
324 |
403 |
1.2e-13 |
PFAM |
|
PbH1
|
572 |
594 |
7.34e3 |
SMART |
|
PbH1
|
595 |
617 |
3.73e3 |
SMART |
|
PbH1
|
719 |
741 |
4.11e3 |
SMART |
|
PbH1
|
798 |
819 |
6.96e2 |
SMART |
|
Blast:PbH1
|
844 |
882 |
7e-17 |
BLAST |
|
Blast:PbH1
|
917 |
952 |
2e-15 |
BLAST |
|
Pfam:ILEI
|
1244 |
1334 |
2.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele activated in Schwann cells exhibit transient acceleration of postnatal myelination, reduced demyelination in culture, and reduced myelin degradation and increases remyelination following nerve axotomy or sciatic nerve crush. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,101 (GRCm39) |
V32M |
possibly damaging |
Het |
| Abca1 |
T |
C |
4: 53,034,046 (GRCm39) |
D2228G |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,480,728 (GRCm39) |
K582R |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,518,454 (GRCm39) |
D128G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,409,509 (GRCm39) |
H133R |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,723,864 (GRCm39) |
D98N |
probably benign |
Het |
| Crlf3 |
T |
C |
11: 79,950,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,501 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,395,470 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
A |
3: 159,221,147 (GRCm39) |
N159K |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,662,004 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
C |
4: 137,824,677 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,001,437 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
T |
A |
9: 109,322,602 (GRCm39) |
M123L |
probably benign |
Het |
| Fus |
T |
A |
7: 127,584,794 (GRCm39) |
L100H |
probably damaging |
Het |
| Gm29247 |
A |
G |
1: 44,146,269 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,857 (GRCm39) |
T842A |
probably damaging |
Het |
| Inpp4a |
A |
T |
1: 37,418,115 (GRCm39) |
Q519L |
probably benign |
Het |
| Kcnip1 |
C |
A |
11: 33,593,290 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,855,975 (GRCm39) |
L2432H |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,022,857 (GRCm39) |
V622A |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,997,317 (GRCm39) |
T1712A |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,826 (GRCm39) |
T475A |
possibly damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,051,649 (GRCm39) |
M134I |
probably benign |
Het |
| Or2a56 |
T |
G |
6: 42,932,663 (GRCm39) |
V77G |
probably damaging |
Het |
| Or52m1 |
T |
A |
7: 102,290,290 (GRCm39) |
L279Q |
probably damaging |
Het |
| Or5p60 |
T |
A |
7: 107,723,595 (GRCm39) |
I292F |
probably damaging |
Het |
| Paqr6 |
T |
G |
3: 88,273,085 (GRCm39) |
I52S |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,721 (GRCm39) |
L677Q |
probably benign |
Het |
| Phax |
C |
T |
18: 56,717,372 (GRCm39) |
R250* |
probably null |
Het |
| Pkn3 |
A |
G |
2: 29,973,158 (GRCm39) |
D356G |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,035,285 (GRCm39) |
L29P |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,664,948 (GRCm39) |
T62I |
probably damaging |
Het |
| Riok3 |
C |
T |
18: 12,276,017 (GRCm39) |
R238C |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,504,025 (GRCm39) |
G125W |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,925 (GRCm39) |
L91H |
probably damaging |
Het |
| Slc25a45 |
A |
G |
19: 5,928,725 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,954,128 (GRCm39) |
Q370* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,250,087 (GRCm39) |
S474P |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,719 (GRCm39) |
T53K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,595,588 (GRCm39) |
T1298A |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,633,887 (GRCm39) |
Q183* |
probably null |
Het |
| Trim26 |
C |
A |
17: 37,161,797 (GRCm39) |
A72E |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,435,169 (GRCm39) |
I330K |
probably benign |
Het |
| Tspan1 |
A |
G |
4: 116,021,052 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,194,561 (GRCm39) |
C4286* |
probably null |
Het |
| Unc13a |
T |
C |
8: 72,105,158 (GRCm39) |
|
probably null |
Het |
| Vmn1r20 |
T |
A |
6: 57,409,583 (GRCm39) |
F303Y |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,190,979 (GRCm39) |
|
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,699 (GRCm39) |
D585N |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,993,001 (GRCm39) |
L791F |
probably damaging |
Het |
| Zfp319 |
C |
A |
8: 96,055,589 (GRCm39) |
V205F |
probably damaging |
Het |
| Zscan25 |
A |
T |
5: 145,227,512 (GRCm39) |
H392L |
probably damaging |
Het |
| Zswim6 |
A |
T |
13: 107,884,786 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Cemip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Cemip
|
APN |
7 |
83,596,488 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01520:Cemip
|
APN |
7 |
83,597,830 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01646:Cemip
|
APN |
7 |
83,632,440 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02057:Cemip
|
APN |
7 |
83,636,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Cemip
|
APN |
7 |
83,646,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02120:Cemip
|
APN |
7 |
83,600,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02278:Cemip
|
APN |
7 |
83,586,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Cemip
|
APN |
7 |
83,613,192 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02366:Cemip
|
APN |
7 |
83,592,849 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02434:Cemip
|
APN |
7 |
83,604,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02958:Cemip
|
APN |
7 |
83,624,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02979:Cemip
|
APN |
7 |
83,652,514 (GRCm39) |
splice site |
probably benign |
|
|
IGL03280:Cemip
|
APN |
7 |
83,636,538 (GRCm39) |
splice site |
probably benign |
|
|
IGL03400:Cemip
|
APN |
7 |
83,607,724 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03134:Cemip
|
UTSW |
7 |
83,648,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Cemip
|
UTSW |
7 |
83,593,147 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0149:Cemip
|
UTSW |
7 |
83,613,218 (GRCm39) |
missense |
probably benign |
|
|
R0212:Cemip
|
UTSW |
7 |
83,622,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0361:Cemip
|
UTSW |
7 |
83,613,218 (GRCm39) |
missense |
probably benign |
|
|
R0565:Cemip
|
UTSW |
7 |
83,613,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0727:Cemip
|
UTSW |
7 |
83,610,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1342:Cemip
|
UTSW |
7 |
83,593,283 (GRCm39) |
nonsense |
probably null |
|
|
R1456:Cemip
|
UTSW |
7 |
83,647,718 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1526:Cemip
|
UTSW |
7 |
83,600,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Cemip
|
UTSW |
7 |
83,613,246 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1718:Cemip
|
UTSW |
7 |
83,584,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2234:Cemip
|
UTSW |
7 |
83,647,770 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2513:Cemip
|
UTSW |
7 |
83,591,233 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3788:Cemip
|
UTSW |
7 |
83,593,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Cemip
|
UTSW |
7 |
83,600,717 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3966:Cemip
|
UTSW |
7 |
83,600,717 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4436:Cemip
|
UTSW |
7 |
83,636,637 (GRCm39) |
missense |
probably null |
0.43 |
|
R4584:Cemip
|
UTSW |
7 |
83,607,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Cemip
|
UTSW |
7 |
83,600,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4717:Cemip
|
UTSW |
7 |
83,596,488 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4767:Cemip
|
UTSW |
7 |
83,622,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Cemip
|
UTSW |
7 |
83,622,449 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4849:Cemip
|
UTSW |
7 |
83,584,945 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4910:Cemip
|
UTSW |
7 |
83,646,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Cemip
|
UTSW |
7 |
83,632,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Cemip
|
UTSW |
7 |
83,596,308 (GRCm39) |
intron |
probably benign |
|
|
R4924:Cemip
|
UTSW |
7 |
83,602,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Cemip
|
UTSW |
7 |
83,591,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Cemip
|
UTSW |
7 |
83,641,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Cemip
|
UTSW |
7 |
83,604,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5378:Cemip
|
UTSW |
7 |
83,607,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5444:Cemip
|
UTSW |
7 |
83,631,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5644:Cemip
|
UTSW |
7 |
83,638,392 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5688:Cemip
|
UTSW |
7 |
83,610,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Cemip
|
UTSW |
7 |
83,624,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Cemip
|
UTSW |
7 |
83,596,438 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6505:Cemip
|
UTSW |
7 |
83,600,805 (GRCm39) |
nonsense |
probably null |
|
|
R6713:Cemip
|
UTSW |
7 |
83,592,845 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6767:Cemip
|
UTSW |
7 |
83,647,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Cemip
|
UTSW |
7 |
83,637,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Cemip
|
UTSW |
7 |
83,647,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Cemip
|
UTSW |
7 |
83,647,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Cemip
|
UTSW |
7 |
83,598,012 (GRCm39) |
splice site |
probably null |
|
|
R7410:Cemip
|
UTSW |
7 |
83,602,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Cemip
|
UTSW |
7 |
83,647,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Cemip
|
UTSW |
7 |
83,606,872 (GRCm39) |
nonsense |
probably null |
|
|
R7924:Cemip
|
UTSW |
7 |
83,592,923 (GRCm39) |
splice site |
probably benign |
|
|
R7962:Cemip
|
UTSW |
7 |
83,652,616 (GRCm39) |
start gained |
probably benign |
|
|
R7988:Cemip
|
UTSW |
7 |
83,652,616 (GRCm39) |
start gained |
probably benign |
|
|
R7993:Cemip
|
UTSW |
7 |
83,613,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Cemip
|
UTSW |
7 |
83,652,616 (GRCm39) |
start gained |
probably benign |
|
|
R8077:Cemip
|
UTSW |
7 |
83,652,616 (GRCm39) |
start gained |
probably benign |
|
|
R8130:Cemip
|
UTSW |
7 |
83,596,384 (GRCm39) |
missense |
probably benign |
|
|
R8131:Cemip
|
UTSW |
7 |
83,652,616 (GRCm39) |
start gained |
probably benign |
|
|
R8172:Cemip
|
UTSW |
7 |
83,646,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Cemip
|
UTSW |
7 |
83,596,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Cemip
|
UTSW |
7 |
83,591,373 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8391:Cemip
|
UTSW |
7 |
83,604,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8492:Cemip
|
UTSW |
7 |
83,622,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8496:Cemip
|
UTSW |
7 |
83,600,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8698:Cemip
|
UTSW |
7 |
83,607,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8835:Cemip
|
UTSW |
7 |
83,586,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Cemip
|
UTSW |
7 |
83,606,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Cemip
|
UTSW |
7 |
83,610,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0970:Cemip
|
UTSW |
7 |
83,632,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0067:Cemip
|
UTSW |
7 |
83,596,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cemip
|
UTSW |
7 |
83,596,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation