Incidental Mutation 'R8835:Cemip'
| ID |
674089 |
| 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 |
068663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83586651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 1301
(G1301V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: G1301V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: G1301V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
C |
3: 121,896,433 (GRCm39) |
G555A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,718,914 (GRCm39) |
K15E |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,429,379 (GRCm39) |
I2V |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,972,144 (GRCm39) |
C26* |
probably null |
Het |
| Arhgef38 |
A |
T |
3: 132,837,832 (GRCm39) |
D699E |
unknown |
Het |
| Atxn2 |
T |
C |
5: 121,940,248 (GRCm39) |
S1008P |
possibly damaging |
Het |
| C1rb |
A |
G |
6: 124,552,217 (GRCm39) |
K312E |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,484,264 (GRCm39) |
R424Q |
probably damaging |
Het |
| Ccdc27 |
G |
A |
4: 154,127,023 (GRCm39) |
T13I |
unknown |
Het |
| Cdc42bpa |
G |
T |
1: 179,896,916 (GRCm39) |
V400F |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,584,429 (GRCm39) |
L650P |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,386,597 (GRCm39) |
D222V |
|
Het |
| Cog8 |
A |
T |
8: 107,773,920 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,447,313 (GRCm39) |
L1279P |
unknown |
Het |
| Cyyr1 |
A |
T |
16: 85,254,553 (GRCm39) |
Y116* |
probably null |
Het |
| Dlgap4 |
A |
T |
2: 156,587,946 (GRCm39) |
S597C |
probably damaging |
Het |
| Dpysl5 |
T |
A |
5: 30,936,282 (GRCm39) |
|
probably null |
Het |
| Dtl |
G |
T |
1: 191,293,609 (GRCm39) |
H189Q |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,723 (GRCm39) |
N275K |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,321,874 (GRCm39) |
C110R |
|
Het |
| Fhod1 |
A |
G |
8: 106,065,484 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
C |
17: 7,958,111 (GRCm39) |
F1712C |
probably damaging |
Het |
| Gcnt7 |
G |
A |
2: 172,295,957 (GRCm39) |
T289M |
probably damaging |
Het |
| Gm11020 |
A |
T |
8: 105,048,293 (GRCm39) |
E32V |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,627 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
G |
A |
9: 85,619,563 (GRCm39) |
L126F |
possibly damaging |
Het |
| Il17rb |
T |
G |
14: 29,722,308 (GRCm39) |
E241A |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,941,802 (GRCm39) |
R631Q |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,750,118 (GRCm39) |
S991T |
possibly damaging |
Het |
| Mctp2 |
T |
G |
7: 71,852,161 (GRCm39) |
E455A |
probably benign |
Het |
| Mgat4a |
A |
T |
1: 37,491,372 (GRCm39) |
I421N |
possibly damaging |
Het |
| Myof |
C |
A |
19: 37,955,547 (GRCm39) |
V526L |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,248,551 (GRCm39) |
G2297D |
possibly damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,307 (GRCm39) |
|
probably benign |
Het |
| Nkx6-1 |
G |
T |
5: 101,811,971 (GRCm39) |
P44T |
unknown |
Het |
| Nploc4 |
T |
C |
11: 120,309,122 (GRCm39) |
K160R |
possibly damaging |
Het |
| Olfm3 |
C |
A |
3: 114,916,061 (GRCm39) |
A331D |
probably damaging |
Het |
| Or10g6 |
A |
C |
9: 39,934,171 (GRCm39) |
S161R |
possibly damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,528,264 (GRCm39) |
N1898S |
probably benign |
Het |
| Pde1a |
G |
A |
2: 79,708,522 (GRCm39) |
L299F |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,454,775 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prom1 |
T |
G |
5: 44,175,722 (GRCm39) |
Y533S |
probably damaging |
Het |
| Prrt4 |
C |
A |
6: 29,169,986 (GRCm39) |
C822F |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,285,201 (GRCm39) |
D542A |
possibly damaging |
Het |
| Ptrh2 |
T |
C |
11: 86,580,412 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pum1 |
C |
T |
4: 130,471,064 (GRCm39) |
T439M |
probably damaging |
Het |
| Rarb |
A |
T |
14: 16,575,011 (GRCm38) |
F2I |
probably benign |
Het |
| Rpp21 |
G |
A |
17: 36,566,678 (GRCm39) |
S127L |
probably benign |
Het |
| Scgb1b19 |
T |
G |
7: 32,986,948 (GRCm39) |
V33G |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,013,949 (GRCm39) |
V74D |
possibly damaging |
Het |
| Spint3 |
T |
A |
2: 164,411,923 (GRCm39) |
K29* |
probably null |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,228,258 (GRCm39) |
W1648R |
probably benign |
Het |
| Tbc1d21 |
C |
G |
9: 58,273,991 (GRCm39) |
V62L |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,270 (GRCm39) |
N130S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,304,975 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tpd52l1 |
G |
T |
10: 31,255,314 (GRCm39) |
T11K |
probably benign |
Het |
| Ttll10 |
G |
T |
4: 156,133,055 (GRCm39) |
P10T |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,409 (GRCm39) |
I150V |
possibly damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,127,411 (GRCm39) |
Y263N |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,628 (GRCm39) |
R279* |
probably null |
Het |
| Zfp715 |
A |
G |
7: 42,948,430 (GRCm39) |
I510T |
|
Het |
| Zfp735 |
A |
T |
11: 73,601,692 (GRCm39) |
H212L |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,772 (GRCm39) |
T944A |
unknown |
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 |
|
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 |
|
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'- GGATGGTAAACACGTGGTACC -3'
(R):5'- TCTCAAATCTCTGGCCAGGC -3'
Sequencing Primer
(F):5'- CAGGAGGCCATTGACCATGTTG -3'
(R):5'- CACTGCCACTGCCACTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation