Incidental Mutation 'R4601:Cemip'
ID |
500680 |
Institutional Source |
Beutler Lab
|
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: 0.068)
|
Stock # |
R4601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83600826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 932
(I932V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: I932V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353 AA Change: I932V
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: ENSMUST00000150495
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.5%
|
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
A |
17: 45,827,847 (GRCm39) |
D555E |
probably damaging |
Het |
Abca16 |
T |
G |
7: 120,035,920 (GRCm39) |
F334L |
probably damaging |
Het |
Abcc4 |
T |
A |
14: 118,869,575 (GRCm39) |
M186L |
probably benign |
Het |
Agap3 |
T |
C |
5: 24,681,406 (GRCm39) |
L120P |
probably damaging |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Aldh1a7 |
A |
T |
19: 20,693,343 (GRCm39) |
V192D |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,520,102 (GRCm39) |
D59G |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,347,359 (GRCm39) |
V936A |
probably benign |
Het |
Camkv |
T |
C |
9: 107,823,295 (GRCm39) |
V107A |
probably damaging |
Het |
Camp |
T |
C |
9: 109,677,730 (GRCm39) |
E80G |
probably damaging |
Het |
Cblif |
A |
C |
19: 11,729,554 (GRCm39) |
D171A |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
Cd101 |
G |
A |
3: 100,901,204 (GRCm39) |
T960M |
possibly damaging |
Het |
Cdk18 |
A |
G |
1: 132,044,657 (GRCm39) |
V323A |
possibly damaging |
Het |
Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
Cep250 |
C |
A |
2: 155,803,973 (GRCm39) |
Q28K |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,676,596 (GRCm39) |
C97R |
probably damaging |
Het |
Cfap126 |
G |
T |
1: 170,941,627 (GRCm39) |
G41C |
possibly damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Chat |
T |
C |
14: 32,146,112 (GRCm39) |
M354V |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,632,945 (GRCm39) |
D168E |
possibly damaging |
Het |
Cpxm1 |
T |
A |
2: 130,235,496 (GRCm39) |
M499L |
possibly damaging |
Het |
Dennd3 |
T |
A |
15: 73,439,009 (GRCm39) |
W1126R |
probably damaging |
Het |
Dgkb |
T |
C |
12: 38,652,819 (GRCm39) |
S735P |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,976,202 (GRCm39) |
|
probably null |
Het |
Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,693,426 (GRCm39) |
N115D |
possibly damaging |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,470,375 (GRCm39) |
D136V |
unknown |
Het |
Exoc2 |
T |
C |
13: 31,066,251 (GRCm39) |
N475S |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,285 (GRCm39) |
D310G |
probably damaging |
Het |
Fam53a |
C |
T |
5: 33,758,007 (GRCm39) |
S372N |
probably benign |
Het |
Fbn2 |
C |
G |
18: 58,186,805 (GRCm39) |
G1699R |
probably damaging |
Het |
Fbxo46 |
T |
C |
7: 18,869,489 (GRCm39) |
V36A |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,648,487 (GRCm39) |
M26V |
probably damaging |
Het |
G6pc1 |
A |
G |
11: 101,263,567 (GRCm39) |
Y127C |
probably damaging |
Het |
Gba2 |
A |
G |
4: 43,573,810 (GRCm39) |
F161L |
probably damaging |
Het |
Gja1 |
T |
C |
10: 56,264,325 (GRCm39) |
L228P |
probably damaging |
Het |
Gm20834 |
A |
G |
Y: 10,323,178 (GRCm39) |
V86A |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,614,396 (GRCm39) |
C1337S |
probably damaging |
Het |
Il1rl1 |
T |
A |
1: 40,480,460 (GRCm39) |
S30T |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,896,548 (GRCm39) |
T1436A |
probably damaging |
Het |
Itk |
T |
A |
11: 46,227,342 (GRCm39) |
Q427L |
probably benign |
Het |
Klhdc4 |
T |
C |
8: 122,526,266 (GRCm39) |
E291G |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,881,887 (GRCm39) |
S250R |
possibly damaging |
Het |
Mnt |
T |
A |
11: 74,727,285 (GRCm39) |
V57E |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,881,844 (GRCm39) |
K736R |
probably benign |
Het |
Musk |
A |
T |
4: 58,301,625 (GRCm39) |
I128F |
probably damaging |
Het |
Myh4 |
G |
A |
11: 67,141,136 (GRCm39) |
A733T |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,043,670 (GRCm39) |
F220I |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,091,361 (GRCm39) |
H305R |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,637,839 (GRCm39) |
Y1132F |
probably damaging |
Het |
Nt5c3b |
A |
C |
11: 100,323,744 (GRCm39) |
D189E |
probably benign |
Het |
Nuf2 |
A |
G |
1: 169,333,683 (GRCm39) |
L331P |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,887,977 (GRCm39) |
T646I |
probably benign |
Het |
Or14j9 |
T |
C |
17: 37,875,076 (GRCm39) |
N42S |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,699,174 (GRCm39) |
E1096G |
probably damaging |
Het |
Pgm2 |
T |
A |
5: 64,265,070 (GRCm39) |
F364I |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,273,421 (GRCm39) |
N612S |
probably damaging |
Het |
Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
Prkd2 |
G |
T |
7: 16,577,573 (GRCm39) |
|
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,041 (GRCm39) |
E296G |
possibly damaging |
Het |
Sav1 |
A |
T |
12: 70,031,095 (GRCm39) |
D142E |
probably benign |
Het |
Scn3b |
C |
A |
9: 40,199,719 (GRCm39) |
P212T |
probably damaging |
Het |
Sel1l |
A |
T |
12: 91,799,827 (GRCm39) |
|
probably null |
Het |
Septin9 |
A |
G |
11: 117,251,310 (GRCm39) |
K543E |
probably damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,894,958 (GRCm39) |
M1T |
probably null |
Het |
Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
Srpk3 |
A |
G |
X: 72,818,547 (GRCm39) |
H79R |
possibly damaging |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Stradb |
G |
A |
1: 59,032,731 (GRCm39) |
S361N |
probably damaging |
Het |
Sult3a2 |
T |
C |
10: 33,658,083 (GRCm39) |
K10R |
probably benign |
Het |
Susd4 |
A |
G |
1: 182,686,025 (GRCm39) |
N192D |
probably damaging |
Het |
Tcp10a |
T |
A |
17: 7,593,374 (GRCm39) |
D32E |
probably benign |
Het |
Tdpoz4 |
T |
A |
3: 93,704,339 (GRCm39) |
V212D |
probably damaging |
Het |
Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tex55 |
A |
G |
16: 38,648,380 (GRCm39) |
V243A |
probably benign |
Het |
Traj37 |
T |
C |
14: 54,418,996 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,373 (GRCm39) |
L420Q |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
Wdr81 |
T |
A |
11: 75,336,484 (GRCm39) |
Q516L |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 82,974,164 (GRCm39) |
T121A |
probably benign |
Het |
Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
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 |
IGL02622:Cemip
|
APN |
7 |
83,613,383 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTGATGCAGTCTGGGTG -3'
(R):5'- AGCAGAGCCAGAATTGTGTGC -3'
Sequencing Primer
(F):5'- TGTCGGACCAGCCAGTTGTC -3'
(R):5'- AGAGCCAGAATTGTGTGCTAGTTTTG -3'
|
Posted On |
2017-12-01 |