Incidental Mutation 'R5378:Cemip'
| ID |
425693 |
| 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 |
042953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5378 (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 83607733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 758
(S758P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: S758P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: S758P
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,396,141 (GRCm39) |
F39L |
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,336,080 (GRCm39) |
L2150R |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,061,865 (GRCm39) |
V3449D |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,305,929 (GRCm39) |
N433D |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,778,912 (GRCm39) |
A1159T |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,650 (GRCm39) |
A271V |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,391 (GRCm39) |
T331I |
possibly damaging |
Het |
| Cenpf |
C |
T |
1: 189,385,663 (GRCm39) |
V2206I |
possibly damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,676,007 (GRCm39) |
S412T |
probably benign |
Het |
| Cks1b |
A |
C |
3: 89,323,608 (GRCm39) |
W54G |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,708,872 (GRCm39) |
V630M |
unknown |
Het |
| Dnajb14 |
A |
G |
3: 137,591,139 (GRCm39) |
D30G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,985,296 (GRCm39) |
Y785H |
probably damaging |
Het |
| Dsel |
T |
A |
1: 111,790,551 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Esp8 |
G |
A |
17: 40,841,033 (GRCm39) |
C98Y |
unknown |
Het |
| F11 |
C |
A |
8: 45,705,180 (GRCm39) |
M120I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,820,185 (GRCm39) |
F5306S |
possibly damaging |
Het |
| Gm4841 |
T |
C |
18: 60,404,113 (GRCm39) |
|
probably null |
Het |
| Gpr180 |
T |
A |
14: 118,377,251 (GRCm39) |
L84Q |
probably benign |
Het |
| Grwd1 |
A |
T |
7: 45,479,505 (GRCm39) |
D123E |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,675,827 (GRCm39) |
R237G |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,055,993 (GRCm39) |
Y328C |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,030,794 (GRCm39) |
A127T |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,299,750 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,940 (GRCm39) |
V2962A |
unknown |
Het |
| Or52s19 |
T |
A |
7: 103,007,652 (GRCm39) |
I250F |
probably damaging |
Het |
| Or5t15 |
A |
T |
2: 86,681,807 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,904,428 (GRCm39) |
T518S |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,228,639 (GRCm39) |
|
probably null |
Het |
| Pip5kl1 |
A |
T |
2: 32,469,106 (GRCm39) |
T213S |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,977 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,035,888 (GRCm39) |
D621V |
probably damaging |
Het |
| Ptgr3 |
G |
A |
18: 84,112,803 (GRCm39) |
A160T |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,007,401 (GRCm39) |
I1655F |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,128,558 (GRCm39) |
K55E |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,633 (GRCm39) |
V196E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,282,861 (GRCm39) |
M434L |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,567,157 (GRCm39) |
H22L |
possibly damaging |
Het |
| Smg6 |
A |
G |
11: 74,932,820 (GRCm39) |
D98G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,489,186 (GRCm39) |
Y527H |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,490,818 (GRCm39) |
V479A |
probably benign |
Het |
| Tdg |
G |
T |
10: 82,477,305 (GRCm39) |
V119L |
probably benign |
Het |
| Trav10d |
G |
A |
14: 53,048,825 (GRCm39) |
R72H |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,489,297 (GRCm39) |
Y145C |
unknown |
Het |
| Trim25 |
T |
C |
11: 88,900,093 (GRCm39) |
L280P |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,726 (GRCm39) |
D49G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,534 (GRCm39) |
|
probably benign |
Het |
| Tyr |
T |
A |
7: 87,121,703 (GRCm39) |
H363L |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,822 (GRCm39) |
S2020P |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,315,928 (GRCm39) |
D2069G |
probably damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,963 (GRCm39) |
W122R |
probably benign |
Het |
| Wdr7 |
G |
A |
18: 63,958,310 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
T |
A |
12: 85,077,029 (GRCm39) |
H793Q |
probably damaging |
Het |
| Zfp266 |
G |
A |
9: 20,410,659 (GRCm39) |
T506I |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,300 (GRCm39) |
S1410P |
probably 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 |
|
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 |
|
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'- TGCTAGGAATTTCAGCTCTCCC -3'
(R):5'- AGTCTAAGAACTGCTGGGTATATGG -3'
Sequencing Primer
(F):5'- CCTTCAGTTACTGGAGTCTGGAC -3'
(R):5'- GGACATATTCAAAAGCATGTGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation