Incidental Mutation 'R2513:Cemip'
ID |
253613 |
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 |
040419-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R2513 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 83591233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1280
(V1280L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064174
AA Change: V1280L
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353 AA Change: V1280L
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: ENSMUST00000145171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,383,809 (GRCm39) |
T719A |
possibly damaging |
Het |
Abcc1 |
A |
G |
16: 14,290,873 (GRCm39) |
|
probably null |
Het |
Aftph |
C |
T |
11: 20,658,676 (GRCm39) |
|
probably null |
Het |
Als2 |
C |
A |
1: 59,254,276 (GRCm39) |
K360N |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,308,076 (GRCm39) |
|
probably null |
Het |
Axl |
T |
C |
7: 25,486,941 (GRCm39) |
D22G |
probably benign |
Het |
Baiap2 |
G |
A |
11: 119,890,052 (GRCm39) |
A438T |
probably benign |
Het |
Bean1 |
G |
C |
8: 104,908,643 (GRCm39) |
A7P |
probably benign |
Het |
Birc6 |
C |
G |
17: 74,954,724 (GRCm39) |
P3431R |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,719,047 (GRCm39) |
M1T |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,741,295 (GRCm39) |
Y1027H |
probably damaging |
Het |
Ccdc6 |
G |
A |
10: 70,023,658 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
C |
A |
19: 47,950,981 (GRCm39) |
N447K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,251,471 (GRCm39) |
L520P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,531,223 (GRCm39) |
|
probably null |
Het |
Cpne7 |
A |
C |
8: 123,844,406 (GRCm39) |
|
probably null |
Het |
Ctla4 |
T |
C |
1: 60,951,723 (GRCm39) |
V84A |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,835,565 (GRCm39) |
V263A |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,549,378 (GRCm39) |
|
probably null |
Het |
Dlg5 |
C |
A |
14: 24,214,593 (GRCm39) |
K663N |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,656,719 (GRCm39) |
F196L |
possibly damaging |
Het |
Eif2ak4 |
C |
A |
2: 118,257,064 (GRCm39) |
D402E |
probably damaging |
Het |
Fance |
T |
C |
17: 28,537,068 (GRCm39) |
V24A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,705,574 (GRCm39) |
L1149Q |
probably damaging |
Het |
Fcgbpl1 |
C |
G |
7: 27,831,060 (GRCm39) |
S91C |
probably damaging |
Het |
Flg |
T |
A |
3: 93,187,093 (GRCm39) |
S182T |
possibly damaging |
Het |
Gm128 |
T |
A |
3: 95,147,293 (GRCm39) |
S334C |
possibly damaging |
Het |
Gm3727 |
A |
C |
14: 7,264,561 (GRCm38) |
H31Q |
probably damaging |
Het |
Gm4841 |
T |
G |
18: 60,403,977 (GRCm39) |
T39P |
probably damaging |
Het |
Golgb1 |
G |
T |
16: 36,735,513 (GRCm39) |
V1587L |
possibly damaging |
Het |
Golm1 |
G |
A |
13: 59,790,072 (GRCm39) |
P243S |
probably benign |
Het |
Gstcd |
C |
A |
3: 132,788,081 (GRCm39) |
A206S |
possibly damaging |
Het |
Gstcd |
C |
A |
3: 132,788,082 (GRCm39) |
K205N |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,280,345 (GRCm39) |
V355A |
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,236 (GRCm39) |
D173G |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,395,994 (GRCm39) |
C660S |
probably benign |
Het |
Kctd8 |
T |
C |
5: 69,267,988 (GRCm39) |
D374G |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,878,594 (GRCm39) |
I229V |
possibly damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,809,505 (GRCm39) |
I702F |
probably benign |
Het |
Lce1d |
T |
C |
3: 92,593,066 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
C |
T |
6: 94,594,347 (GRCm39) |
|
probably null |
Het |
Lrp12 |
A |
T |
15: 39,739,507 (GRCm39) |
D563E |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,336,718 (GRCm39) |
|
probably null |
Het |
Map3k5 |
G |
A |
10: 19,970,201 (GRCm39) |
V703I |
possibly damaging |
Het |
Mecr |
A |
G |
4: 131,581,076 (GRCm39) |
R110G |
probably benign |
Het |
Mtrr |
T |
A |
13: 68,715,092 (GRCm39) |
K445* |
probably null |
Het |
Nanos1 |
T |
A |
19: 60,744,990 (GRCm39) |
L96Q |
probably benign |
Het |
Or13a24 |
T |
G |
7: 140,154,069 (GRCm39) |
M1R |
probably null |
Het |
Or51t4 |
T |
A |
7: 102,598,700 (GRCm39) |
F333I |
probably benign |
Het |
Or6c214 |
T |
A |
10: 129,591,021 (GRCm39) |
L99F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,955,014 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
T |
18: 37,434,294 (GRCm39) |
V87F |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,434,292 (GRCm39) |
L86* |
probably null |
Het |
Pcdhb3 |
A |
T |
18: 37,434,293 (GRCm39) |
L86F |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,894 (GRCm39) |
K322E |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,846,217 (GRCm39) |
S648P |
probably damaging |
Het |
Pigr |
T |
C |
1: 130,774,357 (GRCm39) |
S446P |
possibly damaging |
Het |
Pik3cb |
A |
C |
9: 98,943,895 (GRCm39) |
L636W |
probably damaging |
Het |
Pla2g2f |
A |
T |
4: 138,481,473 (GRCm39) |
L92Q |
probably damaging |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prkar2b |
C |
T |
12: 32,025,928 (GRCm39) |
V191I |
possibly damaging |
Het |
Prune1 |
C |
A |
3: 95,165,430 (GRCm39) |
A281S |
probably benign |
Het |
Ptges3l |
A |
T |
11: 101,314,868 (GRCm39) |
C42S |
possibly damaging |
Het |
Reg3b |
A |
T |
6: 78,348,802 (GRCm39) |
I33L |
probably benign |
Het |
Rel |
A |
G |
11: 23,695,823 (GRCm39) |
I188T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ripor1 |
G |
T |
8: 106,344,254 (GRCm39) |
V463L |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,109,896 (GRCm39) |
D510E |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,440,436 (GRCm39) |
S202P |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,432,889 (GRCm39) |
D1211E |
probably benign |
Het |
Slc30a1 |
A |
T |
1: 191,639,674 (GRCm39) |
T186S |
possibly damaging |
Het |
Slc4a4 |
G |
A |
5: 89,304,257 (GRCm39) |
V523I |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,781,768 (GRCm39) |
|
probably null |
Het |
Smg6 |
A |
G |
11: 74,820,502 (GRCm39) |
T258A |
probably damaging |
Het |
Sptlc1 |
C |
T |
13: 53,491,676 (GRCm39) |
D408N |
possibly damaging |
Het |
Tasor2 |
G |
T |
13: 3,632,150 (GRCm39) |
L784I |
possibly damaging |
Het |
Tbl3 |
T |
C |
17: 24,923,524 (GRCm39) |
|
probably null |
Het |
Tdo2 |
T |
C |
3: 81,876,812 (GRCm39) |
D139G |
possibly damaging |
Het |
Ticam1 |
T |
A |
17: 56,578,612 (GRCm39) |
H161L |
possibly damaging |
Het |
Tnfaip3 |
T |
A |
10: 18,881,407 (GRCm39) |
D293V |
probably benign |
Het |
Trim72 |
G |
A |
7: 127,603,878 (GRCm39) |
V75M |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,803,986 (GRCm39) |
N1632I |
possibly damaging |
Het |
Tspan18 |
A |
T |
2: 93,050,440 (GRCm39) |
M61K |
possibly damaging |
Het |
Tuba8 |
A |
T |
6: 121,202,932 (GRCm39) |
E415V |
probably damaging |
Het |
Ung |
A |
G |
5: 114,275,253 (GRCm39) |
H214R |
probably benign |
Het |
Uqcrc1 |
T |
C |
9: 108,765,836 (GRCm39) |
L17P |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,236,602 (GRCm39) |
|
probably null |
Het |
Vps39 |
A |
C |
2: 120,169,268 (GRCm39) |
Y245D |
probably damaging |
Het |
Whrn |
T |
A |
4: 63,353,649 (GRCm39) |
T373S |
probably benign |
Het |
Zc2hc1a |
C |
T |
3: 7,581,596 (GRCm39) |
|
probably null |
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 |
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'- AAGTTCTCTCCACCCAGTAGAC -3'
(R):5'- GCAGCTGTGTAACCAAACTATG -3'
Sequencing Primer
(F):5'- GTAGACACACACAATCTGTAGGC -3'
(R):5'- GTGTCTACATAGGAAGGATACCTAC -3'
|
Posted On |
2014-12-04 |