Incidental Mutation 'R0361:Cemip'
| ID |
30107 |
| 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 |
038567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0361 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83613218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 660
(I660T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064174
AA Change: I660T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: I660T
| 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
|
| Meta Mutation Damage Score |
0.0816 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (1/1) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
G |
3: 124,207,283 (GRCm39) |
T303P |
possibly damaging |
Het |
| 1700010I14Rik |
G |
T |
17: 9,211,378 (GRCm39) |
V176L |
probably benign |
Het |
| 1700034J05Rik |
T |
C |
6: 146,853,869 (GRCm39) |
T262A |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,908,544 (GRCm39) |
I1165F |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,267 (GRCm39) |
I1773T |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,253,842 (GRCm39) |
L287* |
probably null |
Het |
| Apol10b |
A |
T |
15: 77,469,586 (GRCm39) |
M197K |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,424 (GRCm39) |
R63W |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,608,396 (GRCm39) |
M731T |
probably damaging |
Het |
| Cav1 |
C |
A |
6: 17,339,352 (GRCm39) |
R146S |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,820 (GRCm39) |
I1118F |
probably damaging |
Het |
| Cdk7 |
A |
T |
13: 100,848,062 (GRCm39) |
Y153* |
probably null |
Het |
| Cfap65 |
A |
T |
1: 74,964,599 (GRCm39) |
L518Q |
probably damaging |
Het |
| Cgas |
T |
A |
9: 78,340,534 (GRCm39) |
K399N |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,366,467 (GRCm39) |
H176R |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,004,648 (GRCm39) |
S7P |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,308,351 (GRCm39) |
I1263F |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,044,258 (GRCm39) |
M1867T |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,388,327 (GRCm39) |
L202P |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,769 (GRCm39) |
S100P |
probably benign |
Het |
| Efr3b |
A |
T |
12: 4,027,923 (GRCm39) |
S376T |
probably benign |
Het |
| Eps8l2 |
A |
C |
7: 140,936,112 (GRCm39) |
N222T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,608,806 (GRCm39) |
Y158N |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,964,159 (GRCm39) |
V91A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,909,699 (GRCm39) |
V2101A |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,849 (GRCm39) |
S723P |
possibly damaging |
Het |
| Garem1 |
G |
T |
18: 21,432,801 (GRCm39) |
C9* |
probably null |
Het |
| Gdpd5 |
A |
G |
7: 99,107,997 (GRCm39) |
I530V |
possibly damaging |
Het |
| Gm15217 |
T |
A |
14: 46,617,841 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,289 (GRCm39) |
T478A |
probably benign |
Het |
| H2-M5 |
A |
G |
17: 37,298,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Ing4 |
G |
A |
6: 125,024,857 (GRCm39) |
C200Y |
probably damaging |
Het |
| Kcnip1 |
A |
T |
11: 33,793,177 (GRCm39) |
M5K |
probably benign |
Het |
| Kdsr |
T |
C |
1: 106,675,517 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt15 |
C |
T |
11: 100,024,007 (GRCm39) |
V346M |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,026,589 (GRCm39) |
M145K |
probably damaging |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,985 (GRCm39) |
I439T |
probably benign |
Het |
| Map2k6 |
T |
C |
11: 110,390,335 (GRCm39) |
F290L |
probably damaging |
Het |
| Me1 |
T |
A |
9: 86,533,055 (GRCm39) |
I136F |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,742,294 (GRCm39) |
D98G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,962,096 (GRCm39) |
F696L |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,096,961 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
T |
16: 48,934,368 (GRCm39) |
N645I |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,147,262 (GRCm39) |
I94F |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,890,799 (GRCm39) |
S607T |
probably benign |
Het |
| Noa1 |
G |
A |
5: 77,445,020 (GRCm39) |
Q600* |
probably null |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,466 (GRCm39) |
F492L |
probably damaging |
Het |
| Olfm3 |
T |
A |
3: 114,914,622 (GRCm39) |
D211E |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,641 (GRCm39) |
Y94F |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,871,432 (GRCm39) |
|
probably null |
Het |
| Plagl2 |
A |
T |
2: 153,073,523 (GRCm39) |
D459E |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,091,168 (GRCm39) |
D148G |
possibly damaging |
Het |
| Plxnc1 |
C |
A |
10: 94,700,869 (GRCm39) |
C605F |
probably damaging |
Het |
| Ppm1m |
T |
C |
9: 106,075,325 (GRCm39) |
E108G |
probably damaging |
Het |
| Prr14l |
A |
C |
5: 32,950,985 (GRCm39) |
L1936R |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,354 (GRCm39) |
I1771T |
possibly damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,033,357 (GRCm39) |
T538A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,813,588 (GRCm39) |
N1025D |
possibly damaging |
Het |
| Sec23a |
T |
G |
12: 59,037,804 (GRCm39) |
D324A |
probably damaging |
Het |
| Srgap1 |
A |
T |
10: 121,883,097 (GRCm39) |
M1K |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,965,384 (GRCm39) |
F801I |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,915,163 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
T |
G |
6: 40,468,232 (GRCm39) |
F21V |
probably benign |
Het |
| Tmem260 |
A |
T |
14: 48,689,504 (GRCm39) |
T108S |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,083 (GRCm39) |
Y406C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,673,746 (GRCm39) |
|
probably benign |
Het |
| Vmn1r53 |
A |
T |
6: 90,201,064 (GRCm39) |
S87T |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,196 (GRCm39) |
Y123N |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,496,715 (GRCm39) |
I46F |
probably benign |
Het |
| Zan |
T |
C |
5: 137,395,028 (GRCm39) |
T4381A |
unknown |
Het |
| Zfp457 |
A |
G |
13: 67,440,710 (GRCm39) |
F622L |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
Het |
| Zfy1 |
T |
C |
Y: 726,121 (GRCm39) |
H548R |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,804,938 (GRCm39) |
S441T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGAGCCACAGGTGAGCCACAG -3'
(R):5'- GGCCACTGCTTCTTCACTGAAGATG -3'
Sequencing Primer
(F):5'- gaggagggaagagggagg -3'
(R):5'- TCTTCACTGAAGATGGGCCAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation