Incidental Mutation 'R4922:Cemip'
ID |
378695 |
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 |
042524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4922 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 83596308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064174
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353
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: ENSMUST00000145171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (76/78) |
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 |
Adgrb2 |
G |
T |
4: 129,901,645 (GRCm39) |
C423F |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,220 (GRCm39) |
Y722* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,727,570 (GRCm39) |
H396R |
possibly damaging |
Het |
Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,467,934 (GRCm39) |
R1755S |
probably damaging |
Het |
Atf7ip |
A |
T |
6: 136,537,039 (GRCm39) |
T91S |
possibly damaging |
Het |
Bcl2 |
C |
A |
1: 106,640,376 (GRCm39) |
A79S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,314 (GRCm39) |
I2564K |
probably damaging |
Het |
Bmerb1 |
A |
G |
16: 13,804,683 (GRCm39) |
H10R |
possibly damaging |
Het |
Bmp10 |
C |
T |
6: 87,410,557 (GRCm39) |
P117S |
probably benign |
Het |
Bmpr2 |
A |
G |
1: 59,906,583 (GRCm39) |
T559A |
probably benign |
Het |
Cd200r1 |
A |
T |
16: 44,610,039 (GRCm39) |
Y86F |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,394,116 (GRCm39) |
V335A |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,822,548 (GRCm39) |
|
probably null |
Het |
Chml |
T |
C |
1: 175,514,712 (GRCm39) |
H60R |
possibly damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Clec12a |
A |
G |
6: 129,336,441 (GRCm39) |
Y201C |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,258,719 (GRCm39) |
V370A |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,351,538 (GRCm39) |
I353T |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,230,667 (GRCm39) |
V470E |
probably benign |
Het |
Cyp4a10 |
C |
A |
4: 115,378,291 (GRCm39) |
Q126K |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,652 (GRCm39) |
S249P |
probably damaging |
Het |
Dnase2a |
A |
G |
8: 85,635,625 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
C |
1: 123,305,882 (GRCm39) |
N490S |
probably benign |
Het |
Drgx |
A |
T |
14: 32,330,363 (GRCm39) |
N160I |
probably damaging |
Het |
Enc1 |
C |
T |
13: 97,382,243 (GRCm39) |
A251V |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,562,434 (GRCm39) |
V1258A |
probably benign |
Het |
Fancm |
G |
A |
12: 65,153,666 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
C |
T |
14: 65,536,657 (GRCm39) |
T177I |
probably benign |
Het |
Gm1965 |
T |
C |
6: 89,123,525 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
A |
T |
10: 93,339,401 (GRCm39) |
M497L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,497,378 (GRCm39) |
L3936S |
possibly damaging |
Het |
Hs3st4 |
G |
T |
7: 123,996,410 (GRCm39) |
G359W |
probably damaging |
Het |
Il6st |
C |
T |
13: 112,639,399 (GRCm39) |
P608L |
probably damaging |
Het |
Kctd18 |
A |
C |
1: 58,004,707 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,940,309 (GRCm39) |
S1636T |
probably damaging |
Het |
Lrrn1 |
A |
T |
6: 107,545,311 (GRCm39) |
S370C |
probably damaging |
Het |
Mtcl1 |
A |
C |
17: 66,655,474 (GRCm39) |
C968G |
probably benign |
Het |
Mylip |
G |
A |
13: 45,562,238 (GRCm39) |
A347T |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,252 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
A |
1: 93,950,200 (GRCm39) |
V53E |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,680,687 (GRCm39) |
I302V |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,576 (GRCm39) |
C100S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,811 (GRCm39) |
L243Q |
possibly damaging |
Het |
Otos |
T |
C |
1: 92,572,090 (GRCm39) |
T79A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,122,009 (GRCm39) |
I578T |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prex2 |
C |
T |
1: 11,240,164 (GRCm39) |
P927S |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,116 (GRCm39) |
K1873N |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,887,417 (GRCm39) |
|
probably null |
Het |
Reln |
T |
A |
5: 22,200,585 (GRCm39) |
|
probably null |
Het |
Rgl2 |
A |
G |
17: 34,151,749 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,063 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,724,849 (GRCm39) |
E2488G |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,379,664 (GRCm39) |
M1056K |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,259,245 (GRCm39) |
V635A |
probably benign |
Het |
Snx19 |
T |
A |
9: 30,348,763 (GRCm39) |
Y101N |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,925,746 (GRCm39) |
|
probably null |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speer4a2 |
A |
T |
5: 26,289,791 (GRCm39) |
I212N |
probably damaging |
Het |
Tmem30b |
G |
A |
12: 73,592,488 (GRCm39) |
P209L |
probably damaging |
Het |
Trbv12-2 |
G |
T |
6: 41,096,081 (GRCm39) |
C52F |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,819,343 (GRCm39) |
D1304V |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,214,183 (GRCm39) |
Y487C |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,090,811 (GRCm39) |
N134K |
probably damaging |
Het |
Wdr27 |
C |
A |
17: 15,141,016 (GRCm39) |
|
probably null |
Het |
Wdr75 |
T |
C |
1: 45,855,638 (GRCm39) |
F430L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,211,299 (GRCm39) |
I170T |
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 |
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'- GCAGTGGATTTACACAACATGG -3'
(R):5'- TTCACAATCGCCTGCTAAAGC -3'
Sequencing Primer
(F):5'- TAAGTGGTTGAGAGCATGG -3'
(R):5'- GCAAACGTCCAAGACTGGGAC -3'
|
Posted On |
2016-04-15 |