Incidental Mutation 'R1456:Cemip'
ID |
161787 |
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 |
039511-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R1456 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83647718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 121
(S121C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064174
AA Change: S121C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353 AA Change: S121C
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: ENSMUST00000147578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.9%
|
Validation Efficiency |
98% (90/92) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
C |
T |
2: 19,485,731 (GRCm39) |
|
probably null |
Het |
4932414N04Rik |
A |
T |
2: 68,546,558 (GRCm39) |
E80V |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 93,831,764 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
T |
1: 72,704,277 (GRCm39) |
Y664N |
probably benign |
Het |
Arhgap18 |
T |
C |
10: 26,792,436 (GRCm39) |
I629T |
probably benign |
Het |
Arhgef28 |
C |
T |
13: 98,211,510 (GRCm39) |
E158K |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,916,285 (GRCm39) |
I427V |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,262,896 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,283,481 (GRCm39) |
D16E |
possibly damaging |
Het |
Cct6b |
G |
T |
11: 82,644,446 (GRCm39) |
|
probably benign |
Het |
Ccz1 |
A |
G |
5: 143,947,836 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,322,899 (GRCm39) |
N335S |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,783,838 (GRCm39) |
E262G |
probably damaging |
Het |
Clec11a |
G |
T |
7: 43,955,874 (GRCm39) |
P58T |
possibly damaging |
Het |
Clec16a |
T |
C |
16: 10,509,419 (GRCm39) |
I797T |
probably damaging |
Het |
Col4a1 |
A |
C |
8: 11,292,829 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
A |
1: 152,360,655 (GRCm39) |
V231I |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,038,428 (GRCm39) |
N1580K |
probably damaging |
Het |
Dcdc5 |
A |
G |
2: 106,181,910 (GRCm39) |
|
noncoding transcript |
Het |
Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,341,441 (GRCm39) |
D601E |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,646,853 (GRCm39) |
Y1059H |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,848,569 (GRCm39) |
|
probably benign |
Het |
Egfr |
A |
G |
11: 16,813,065 (GRCm39) |
S182G |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,116 (GRCm39) |
N131S |
probably benign |
Het |
Fam243 |
T |
A |
16: 92,117,553 (GRCm39) |
Y245F |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,165,125 (GRCm39) |
A1490V |
possibly damaging |
Het |
Fsd2 |
C |
A |
7: 81,209,339 (GRCm39) |
E168* |
probably null |
Het |
Galnt2l |
T |
C |
8: 123,568,687 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
A |
T |
17: 22,226,099 (GRCm39) |
C62S |
probably damaging |
Het |
H60c |
C |
T |
10: 3,210,307 (GRCm39) |
A81T |
possibly damaging |
Het |
Hira |
T |
G |
16: 18,744,413 (GRCm39) |
S377A |
probably benign |
Het |
Iffo1 |
T |
C |
6: 125,122,877 (GRCm39) |
S220P |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,614,610 (GRCm39) |
M491V |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,559,777 (GRCm39) |
R102G |
possibly damaging |
Het |
Klhdc7a |
T |
G |
4: 139,692,835 (GRCm39) |
Y704S |
possibly damaging |
Het |
Klk1b21 |
G |
A |
7: 43,754,923 (GRCm39) |
V73I |
probably benign |
Het |
Krt42 |
G |
A |
11: 100,160,435 (GRCm39) |
A88V |
probably benign |
Het |
Krt42 |
C |
T |
11: 100,160,436 (GRCm39) |
A88T |
probably benign |
Het |
Limk1 |
G |
T |
5: 134,686,364 (GRCm39) |
D580E |
probably benign |
Het |
Lipk |
C |
T |
19: 34,024,185 (GRCm39) |
P323S |
probably damaging |
Het |
Lipo5 |
T |
A |
19: 33,443,273 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,736,325 (GRCm39) |
D166G |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,125,923 (GRCm39) |
N439K |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,803,626 (GRCm39) |
R32W |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,779,550 (GRCm39) |
|
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,097,777 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh7 |
G |
A |
4: 106,552,338 (GRCm39) |
|
probably benign |
Het |
Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
Ms4a10 |
T |
A |
19: 10,942,097 (GRCm39) |
T175S |
possibly damaging |
Het |
Muc17 |
T |
C |
5: 137,166,799 (GRCm39) |
H330R |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,399,028 (GRCm39) |
I2787F |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,846,277 (GRCm39) |
C11R |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,464,300 (GRCm39) |
G1669* |
probably null |
Het |
Or5p56 |
A |
G |
7: 107,589,605 (GRCm39) |
E11G |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,223,652 (GRCm39) |
D50V |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,134 (GRCm39) |
Y214H |
probably benign |
Het |
Pafah2 |
T |
A |
4: 134,131,468 (GRCm39) |
I52N |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,693,283 (GRCm39) |
I693F |
possibly damaging |
Het |
Pde4c |
G |
T |
8: 71,199,262 (GRCm39) |
R228L |
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,288,904 (GRCm39) |
N832S |
probably benign |
Het |
Plbd1 |
T |
A |
6: 136,590,814 (GRCm39) |
M451L |
probably benign |
Het |
Pramel14 |
G |
T |
4: 143,719,851 (GRCm39) |
D171E |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,194,965 (GRCm39) |
D260G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,310 (GRCm39) |
S813P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,520,544 (GRCm39) |
I119V |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,365,967 (GRCm39) |
T353A |
probably damaging |
Het |
Shq1 |
A |
T |
6: 100,646,659 (GRCm39) |
|
probably null |
Het |
Slc22a28 |
T |
A |
19: 8,049,223 (GRCm39) |
H342L |
possibly damaging |
Het |
Slco2b1 |
C |
T |
7: 99,314,114 (GRCm39) |
E9K |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,118 (GRCm39) |
F505L |
probably damaging |
Het |
Sptan1 |
G |
T |
2: 29,870,215 (GRCm39) |
|
probably null |
Het |
St6gal2 |
A |
G |
17: 55,797,932 (GRCm39) |
|
probably benign |
Het |
Taok2 |
T |
C |
7: 126,479,313 (GRCm39) |
I73V |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,721,229 (GRCm39) |
T478I |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,744,542 (GRCm39) |
N361K |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,296,907 (GRCm39) |
Y429* |
probably null |
Het |
Tprkb |
A |
T |
6: 85,901,403 (GRCm39) |
R14W |
probably damaging |
Het |
Trio |
A |
T |
15: 27,753,890 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,316,902 (GRCm39) |
|
probably benign |
Het |
Vmn1r211 |
T |
C |
13: 23,036,415 (GRCm39) |
Y84C |
probably damaging |
Het |
Vmn2r22 |
C |
G |
6: 123,614,624 (GRCm39) |
G322A |
possibly damaging |
Het |
Wdr74 |
A |
G |
19: 8,717,776 (GRCm39) |
Q330R |
probably benign |
Het |
Wdtc1 |
C |
A |
4: 133,024,739 (GRCm39) |
S486I |
possibly damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,989 (GRCm39) |
V673A |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,965,877 (GRCm39) |
R655S |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,157,798 (GRCm39) |
N694D |
probably benign |
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 |
|
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 |
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'- ACTGGAAAGCTACTGAGAGCCTGC -3'
(R):5'- CTGAAAAGATGCCCTTTTGTCTGCC -3'
Sequencing Primer
(F):5'- TGGACAAAGAGCCTCTTAGATAC -3'
(R):5'- tgtctgcctaaggggatgg -3'
|
Posted On |
2014-03-14 |