Incidental Mutation 'R5310:Cemip'
| ID |
404786 |
| 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 |
| MMRRC Submission |
042893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83641241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 261
(L261H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: L261H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: L261H
| 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: ENSMUST00000147578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| Validation Efficiency |
100% (74/74) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,931,839 (GRCm39) |
I31L |
possibly damaging |
Het |
| Abca17 |
T |
C |
17: 24,500,204 (GRCm39) |
K1329R |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,952,427 (GRCm39) |
Y197H |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,624,809 (GRCm39) |
V3720A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,592,350 (GRCm39) |
S870T |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,016,501 (GRCm39) |
E493G |
probably benign |
Het |
| Ap2a1 |
A |
G |
7: 44,555,489 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
A |
G |
3: 132,822,227 (GRCm39) |
L179P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,124,909 (GRCm39) |
D630G |
possibly damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,415,201 (GRCm39) |
L154Q |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,905,483 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
T |
A |
15: 85,810,423 (GRCm39) |
N2155I |
possibly damaging |
Het |
| Cep57 |
G |
A |
9: 13,730,164 (GRCm39) |
H98Y |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,755,805 (GRCm39) |
L247Q |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,474 (GRCm39) |
M374L |
probably damaging |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,795 (GRCm39) |
D372G |
probably damaging |
Het |
| Dazl |
C |
A |
17: 50,588,311 (GRCm39) |
S288I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,311,474 (GRCm39) |
F1818L |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,210,204 (GRCm39) |
V143A |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,192,687 (GRCm39) |
H838Q |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,469,217 (GRCm39) |
D1223V |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,576 (GRCm39) |
I229T |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,760,794 (GRCm39) |
M1T |
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,708,162 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,946,633 (GRCm39) |
K618R |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,766,760 (GRCm39) |
I346K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,757,993 (GRCm39) |
Q533R |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,403,927 (GRCm39) |
S23P |
possibly damaging |
Het |
| Htr6 |
G |
T |
4: 138,788,977 (GRCm39) |
H359Q |
probably damaging |
Het |
| Ifit1 |
T |
C |
19: 34,626,204 (GRCm39) |
F447L |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,315,684 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Khk |
G |
A |
5: 31,084,373 (GRCm39) |
V118M |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,845,671 (GRCm39) |
K181M |
probably damaging |
Het |
| Lbh |
T |
C |
17: 73,228,287 (GRCm39) |
|
probably null |
Het |
| Lmo2 |
T |
C |
2: 103,806,445 (GRCm39) |
I108T |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,564,330 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,315,251 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,498,169 (GRCm39) |
V525A |
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,778,164 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,328,007 (GRCm39) |
N682S |
probably benign |
Het |
| Nr2e3 |
G |
A |
9: 59,856,617 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,171 (GRCm39) |
C129R |
probably damaging |
Het |
| Or6b2b |
T |
C |
1: 92,418,758 (GRCm39) |
T240A |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,878,847 (GRCm39) |
S1319F |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,842,887 (GRCm39) |
K2024R |
probably damaging |
Het |
| Pld4 |
G |
A |
12: 112,735,046 (GRCm39) |
C501Y |
probably damaging |
Het |
| Psg16 |
C |
T |
7: 16,824,560 (GRCm39) |
R115W |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,870,110 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,335,049 (GRCm39) |
K111N |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,927,571 (GRCm39) |
E113G |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Skint6 |
C |
A |
4: 113,041,965 (GRCm39) |
E292* |
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,134,373 (GRCm39) |
M170T |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,050,034 (GRCm39) |
N127S |
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,875,285 (GRCm39) |
H6Y |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,169 (GRCm39) |
V337G |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,427,145 (GRCm39) |
C338* |
probably null |
Het |
| Tbk1 |
A |
T |
10: 121,391,956 (GRCm39) |
M486K |
probably benign |
Het |
| Terf1 |
A |
T |
1: 15,875,909 (GRCm39) |
E3V |
probably damaging |
Het |
| Thoc5 |
T |
A |
11: 4,860,648 (GRCm39) |
Y246N |
probably damaging |
Het |
| Tmem167b |
G |
A |
3: 108,469,415 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
A |
6: 148,256,910 (GRCm39) |
|
probably benign |
Het |
| Zfp322a |
A |
T |
13: 23,541,532 (GRCm39) |
M70K |
possibly damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,375 (GRCm39) |
H111Q |
possibly damaging |
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 |
|
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 |
|
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 |
|
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'- TAGCCTTTGAGCACCATGCC -3'
(R):5'- GTACATAGGTCACTGTCTCTTTCAG -3'
Sequencing Primer
(F):5'- AGCACCATGCCTGAGTTTG -3'
(R):5'- TTTCAGACTGCTGCCAAGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation