Incidental Mutation 'R4924:Cemip'
| ID |
378864 |
| 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 |
042526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4924 (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 C
at 83602146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 881
(Y881C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: Y881C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: Y881C
| 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: ENSMUST00000150495
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,902,351 (GRCm39) |
H625Y |
probably damaging |
Het |
| Adamts4 |
C |
T |
1: 171,086,643 (GRCm39) |
R812W |
probably damaging |
Het |
| Ajuba |
A |
C |
14: 54,809,056 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,344,503 (GRCm39) |
V532D |
probably damaging |
Het |
| Arpc1b |
G |
A |
5: 145,063,625 (GRCm39) |
S295N |
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,887,850 (GRCm39) |
S335G |
probably damaging |
Het |
| Brap |
T |
G |
5: 121,803,318 (GRCm39) |
N155K |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,396 (GRCm39) |
|
probably benign |
Het |
| Ccl12 |
G |
A |
11: 81,993,475 (GRCm39) |
V38I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,989,174 (GRCm39) |
|
silent |
Het |
| Chd5 |
A |
C |
4: 152,450,886 (GRCm39) |
D670A |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 117,983,994 (GRCm39) |
Y52H |
probably benign |
Het |
| Dmtn |
A |
G |
14: 70,855,399 (GRCm39) |
I30T |
probably benign |
Het |
| Dscaml1 |
T |
A |
9: 45,656,487 (GRCm39) |
M1609K |
probably damaging |
Het |
| Edar |
C |
A |
10: 58,465,197 (GRCm39) |
E55D |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,734 (GRCm39) |
I601N |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,055,572 (GRCm39) |
N705K |
probably benign |
Het |
| Gm21718 |
G |
T |
14: 51,550,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaz |
A |
G |
10: 74,827,545 (GRCm39) |
D99G |
probably benign |
Het |
| Helz |
G |
A |
11: 107,493,165 (GRCm39) |
G196D |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,331 (GRCm39) |
S341P |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,311,792 (GRCm39) |
S1344I |
probably benign |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Ift81 |
A |
G |
5: 122,732,679 (GRCm39) |
L285S |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,849,253 (GRCm39) |
N891K |
probably damaging |
Het |
| Irx6 |
C |
T |
8: 93,404,981 (GRCm39) |
T283M |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,559,089 (GRCm39) |
K1538E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 47,083,075 (GRCm39) |
V8A |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,036 (GRCm39) |
N34K |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 27,245,137 (GRCm39) |
I215L |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,900,328 (GRCm39) |
R58H |
possibly damaging |
Het |
| Lvrn |
C |
T |
18: 47,027,792 (GRCm39) |
P869L |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,565,504 (GRCm39) |
F411S |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,828,455 (GRCm39) |
H702Q |
probably benign |
Het |
| Nat8f4 |
G |
T |
6: 85,878,401 (GRCm39) |
Q41K |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,765 (GRCm39) |
E596* |
probably null |
Het |
| Nek10 |
T |
A |
14: 14,846,594 (GRCm38) |
|
probably null |
Het |
| Notch3 |
T |
C |
17: 32,363,705 (GRCm39) |
Y1145C |
probably damaging |
Het |
| Nr4a2 |
A |
T |
2: 57,002,035 (GRCm39) |
H76Q |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,784,185 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Or4k48 |
A |
T |
2: 111,476,121 (GRCm39) |
S74T |
possibly damaging |
Het |
| Or5k1b |
T |
A |
16: 58,580,982 (GRCm39) |
R186* |
probably null |
Het |
| Or8k33 |
A |
T |
2: 86,383,853 (GRCm39) |
F205Y |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,720,409 (GRCm39) |
Y231H |
probably benign |
Het |
| Plagl1 |
G |
T |
10: 13,003,301 (GRCm39) |
A190S |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,268,269 (GRCm39) |
I345N |
probably damaging |
Het |
| Pnmt |
A |
G |
11: 98,278,286 (GRCm39) |
E120G |
probably damaging |
Het |
| Prkrip1 |
C |
A |
5: 136,227,797 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,443,754 (GRCm39) |
A572T |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,807,400 (GRCm39) |
F39L |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,268 (GRCm39) |
H388R |
probably benign |
Het |
| Scn4a |
G |
T |
11: 106,210,914 (GRCm39) |
A1701E |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,748,584 (GRCm39) |
W616L |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,357,729 (GRCm39) |
S218T |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,309,297 (GRCm39) |
R87H |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,785,998 (GRCm39) |
L284M |
probably damaging |
Het |
| Smok3c |
G |
T |
5: 138,063,844 (GRCm39) |
E444* |
probably null |
Het |
| Snx4 |
T |
C |
16: 33,115,100 (GRCm39) |
V427A |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,151,684 (GRCm39) |
V304E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,678,808 (GRCm39) |
H243L |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,049,737 (GRCm39) |
V14A |
probably damaging |
Het |
| Sv2b |
T |
A |
7: 74,786,169 (GRCm39) |
Y417F |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,161 (GRCm39) |
Y302H |
probably benign |
Het |
| Thop1 |
T |
C |
10: 80,916,028 (GRCm39) |
S404P |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,051,701 (GRCm39) |
C988* |
probably null |
Het |
| Tsbp1 |
C |
T |
17: 34,678,951 (GRCm39) |
P221L |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,836,269 (GRCm39) |
E630G |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,718 (GRCm39) |
S733P |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,189 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,882 (GRCm39) |
H32L |
probably benign |
Het |
| Wnt2 |
A |
G |
6: 18,023,239 (GRCm39) |
C137R |
probably damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,980,871 (GRCm39) |
S489P |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,033 (GRCm39) |
C418R |
probably damaging |
Het |
| Zfp946 |
T |
G |
17: 22,674,502 (GRCm39) |
F419V |
probably damaging |
Het |
| Zfp994 |
C |
T |
17: 22,419,738 (GRCm39) |
E404K |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,347 (GRCm39) |
V304A |
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 |
|
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 |
|
|
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'- TCATCACTTGAAGCCTGGC -3'
(R):5'- GCCCATAAATGCCTTCCCAGTG -3'
Sequencing Primer
(F):5'- ACTTGAAGCCTGGCTGTGC -3'
(R):5'- TGCCTTCCCAGTGAATTAATTAAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation