Incidental Mutation 'R1676:Cemip'
ID |
188072 |
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 |
039712-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R1676 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83613246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 651
(I651F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064174
AA Change: I651F
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353 AA Change: I651F
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
G |
T |
11: 58,771,819 (GRCm39) |
A434S |
possibly damaging |
Het |
Abhd8 |
T |
A |
8: 71,914,517 (GRCm39) |
D37V |
probably damaging |
Het |
Acvr2a |
G |
A |
2: 48,763,095 (GRCm39) |
S97N |
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,394,940 (GRCm39) |
H296Q |
probably damaging |
Het |
Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
Cap2 |
T |
G |
13: 46,791,335 (GRCm39) |
H167Q |
probably damaging |
Het |
Car8 |
A |
G |
4: 8,185,616 (GRCm39) |
L180S |
probably damaging |
Het |
Casp8 |
T |
A |
1: 58,883,575 (GRCm39) |
I314N |
probably damaging |
Het |
Cavin2 |
T |
A |
1: 51,340,330 (GRCm39) |
S336T |
probably benign |
Het |
Cdc14b |
A |
T |
13: 64,373,416 (GRCm39) |
I119N |
possibly damaging |
Het |
Cfap57 |
T |
A |
4: 118,453,137 (GRCm39) |
D522V |
probably damaging |
Het |
Clrn3 |
A |
T |
7: 135,120,307 (GRCm39) |
V93D |
probably damaging |
Het |
Crppa |
T |
C |
12: 36,526,720 (GRCm39) |
C170R |
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
D5Ertd579e |
A |
G |
5: 36,773,453 (GRCm39) |
V314A |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,404,128 (GRCm39) |
V2805I |
probably benign |
Het |
Dsp |
A |
T |
13: 38,377,350 (GRCm39) |
K1712* |
probably null |
Het |
Emilin2 |
T |
C |
17: 71,581,085 (GRCm39) |
D547G |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,419,117 (GRCm39) |
H248R |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,468,260 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,151,701 (GRCm39) |
T2518A |
probably damaging |
Het |
Fzd2 |
G |
A |
11: 102,496,707 (GRCm39) |
V384M |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,607,510 (GRCm39) |
S371T |
probably damaging |
Het |
Hbb-bh2 |
T |
C |
7: 103,488,362 (GRCm39) |
K145R |
probably null |
Het |
Hectd1 |
G |
T |
12: 51,791,571 (GRCm39) |
P2558Q |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,444,633 (GRCm39) |
|
probably null |
Het |
Hirip3 |
T |
C |
7: 126,462,647 (GRCm39) |
|
probably null |
Het |
Itpkc |
T |
C |
7: 26,907,706 (GRCm39) |
D666G |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,060,588 (GRCm39) |
D693E |
probably benign |
Het |
Katnbl1 |
T |
C |
2: 112,236,454 (GRCm39) |
L60P |
probably damaging |
Het |
Kcna1 |
T |
A |
6: 126,619,645 (GRCm39) |
E225V |
probably damaging |
Het |
Kcnj6 |
T |
A |
16: 94,633,443 (GRCm39) |
M223L |
probably damaging |
Het |
Kcnk7 |
G |
T |
19: 5,757,006 (GRCm39) |
V332F |
probably benign |
Het |
Kmt5a |
GAA |
GA |
5: 124,597,948 (GRCm39) |
|
probably null |
Het |
Mdga2 |
C |
A |
12: 66,615,546 (GRCm39) |
G618V |
probably damaging |
Het |
Mdga2 |
C |
A |
12: 66,615,547 (GRCm39) |
G618* |
probably null |
Het |
Morc2b |
T |
C |
17: 33,354,955 (GRCm39) |
E939G |
possibly damaging |
Het |
Mstn |
T |
A |
1: 53,101,224 (GRCm39) |
D100E |
probably benign |
Het |
Mthfd1l |
G |
A |
10: 4,033,877 (GRCm39) |
|
probably null |
Het |
Muc20 |
T |
A |
16: 32,614,649 (GRCm39) |
T243S |
probably damaging |
Het |
Myo1d |
A |
T |
11: 80,575,247 (GRCm39) |
N156K |
probably damaging |
Het |
Myo7a |
A |
G |
7: 97,748,679 (GRCm39) |
|
probably null |
Het |
Naa35 |
A |
T |
13: 59,760,490 (GRCm39) |
Q274L |
probably damaging |
Het |
Ncam1 |
G |
A |
9: 49,468,472 (GRCm39) |
T329I |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,902,859 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,073,637 (GRCm39) |
W69R |
probably benign |
Het |
Nrap |
T |
A |
19: 56,323,687 (GRCm39) |
H1294L |
probably damaging |
Het |
Nsun6 |
T |
A |
2: 15,052,024 (GRCm39) |
R56* |
probably null |
Het |
Nudt1 |
A |
G |
5: 140,320,378 (GRCm39) |
|
probably null |
Het |
Nxph4 |
T |
G |
10: 127,362,077 (GRCm39) |
K271N |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,653 (GRCm39) |
R51* |
probably null |
Het |
Or4a66 |
T |
G |
2: 88,531,661 (GRCm39) |
H4P |
probably benign |
Het |
Or51e2 |
T |
A |
7: 102,391,605 (GRCm39) |
I202F |
probably damaging |
Het |
Or52a20 |
T |
C |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
Otud6b |
T |
A |
4: 14,825,617 (GRCm39) |
N71I |
probably damaging |
Het |
Parp8 |
T |
A |
13: 117,014,064 (GRCm39) |
D623V |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,453,805 (GRCm39) |
S62P |
probably benign |
Het |
Ppp1r12b |
A |
G |
1: 134,705,190 (GRCm39) |
S833P |
probably damaging |
Het |
Ppp1r1a |
T |
G |
15: 103,441,915 (GRCm39) |
D51A |
probably damaging |
Het |
Prag1 |
C |
A |
8: 36,570,052 (GRCm39) |
P212T |
probably damaging |
Het |
Prxl2b |
C |
T |
4: 154,981,520 (GRCm39) |
V186I |
probably benign |
Het |
Ptdss1 |
A |
G |
13: 67,081,701 (GRCm39) |
T44A |
probably damaging |
Het |
Rab14 |
T |
C |
2: 35,076,735 (GRCm39) |
H83R |
possibly damaging |
Het |
Rapgef3 |
C |
T |
15: 97,659,063 (GRCm39) |
G101E |
probably benign |
Het |
Rimbp3 |
T |
A |
16: 17,028,977 (GRCm39) |
D800E |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Selenbp1 |
A |
G |
3: 94,851,854 (GRCm39) |
D465G |
probably damaging |
Het |
Slc28a2b |
T |
C |
2: 122,352,340 (GRCm39) |
S366P |
probably damaging |
Het |
Slc29a1 |
T |
C |
17: 45,899,936 (GRCm39) |
D251G |
probably damaging |
Het |
Slc6a11 |
G |
T |
6: 114,224,627 (GRCm39) |
V604F |
probably benign |
Het |
Sltm |
T |
A |
9: 70,480,929 (GRCm39) |
D260E |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
St6gal2 |
T |
C |
17: 55,803,396 (GRCm39) |
|
probably null |
Het |
Tc2n |
A |
G |
12: 101,655,251 (GRCm39) |
S235P |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,870,154 (GRCm39) |
N213I |
possibly damaging |
Het |
Ticam2 |
T |
C |
18: 46,693,677 (GRCm39) |
T137A |
probably damaging |
Het |
Ttn |
TCCC |
TCCCC |
2: 76,573,251 (GRCm39) |
|
probably null |
Het |
Tyk2 |
G |
A |
9: 21,026,545 (GRCm39) |
Q684* |
probably null |
Het |
Ubqln1 |
A |
G |
13: 58,327,205 (GRCm39) |
F478S |
possibly damaging |
Het |
Uckl1 |
G |
A |
2: 181,216,711 (GRCm39) |
T78I |
probably damaging |
Het |
Uhmk1 |
A |
G |
1: 170,027,581 (GRCm39) |
V372A |
probably damaging |
Het |
Unc5c |
G |
A |
3: 141,463,598 (GRCm39) |
V240I |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,460,782 (GRCm39) |
L2681P |
probably damaging |
Het |
Vmn2r1 |
C |
T |
3: 63,997,603 (GRCm39) |
Q420* |
probably null |
Het |
Vmn2r101 |
A |
T |
17: 19,832,184 (GRCm39) |
T727S |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,839 (GRCm39) |
T413A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,834,244 (GRCm39) |
V1637A |
probably benign |
Het |
Xpc |
A |
G |
6: 91,469,929 (GRCm39) |
V765A |
possibly damaging |
Het |
Zbtb18 |
T |
G |
1: 177,274,913 (GRCm39) |
|
probably null |
Het |
Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
probably benign |
Het |
Zfp735 |
A |
G |
11: 73,602,301 (GRCm39) |
N415S |
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 |
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'- TACCTCACTCTGAGAAGCAGGCAG -3'
(R):5'- CACAAGCTTAGTCTCCCCTTGAACC -3'
Sequencing Primer
(F):5'- GGCAGAGGTGAGCATCTTG -3'
(R):5'- GGTGCTGAGTAAAACTCCTGTC -3'
|
Posted On |
2014-05-09 |