Incidental Mutation 'R4584:Cemip'
| ID |
343917 |
| 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 |
041805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4584 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83607747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 753
(K753R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: K753R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: K753R
| 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
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (86/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,886,756 (GRCm39) |
N343D |
probably damaging |
Het |
| 9530002B09Rik |
T |
A |
4: 122,594,979 (GRCm39) |
D78E |
possibly damaging |
Het |
| A2m |
C |
A |
6: 121,634,365 (GRCm39) |
D632E |
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,440,035 (GRCm39) |
S453P |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,833,675 (GRCm39) |
F269I |
probably damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,222,468 (GRCm39) |
P92S |
probably benign |
Het |
| Cdc34 |
T |
A |
10: 79,523,869 (GRCm39) |
D108E |
possibly damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,997 (GRCm39) |
V1151G |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,246,095 (GRCm39) |
L787Q |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,727 (GRCm39) |
N8S |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,335,086 (GRCm39) |
T80K |
possibly damaging |
Het |
| Ddx6 |
T |
C |
9: 44,535,784 (GRCm39) |
V171A |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,494,551 (GRCm39) |
T34K |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,763 (GRCm39) |
|
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
| Gmcl1 |
A |
G |
6: 86,699,605 (GRCm39) |
S141P |
probably damaging |
Het |
| Gtf2a1 |
C |
T |
12: 91,529,700 (GRCm39) |
V338I |
possibly damaging |
Het |
| H2-T15 |
A |
T |
17: 36,368,559 (GRCm39) |
M123K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,557,016 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Igkv4-80 |
T |
C |
6: 68,993,720 (GRCm39) |
Y57C |
probably damaging |
Het |
| Itpk1 |
G |
A |
12: 102,536,416 (GRCm39) |
A410V |
possibly damaging |
Het |
| Itsn1 |
T |
A |
16: 91,617,471 (GRCm39) |
|
probably benign |
Het |
| Kcnk3 |
G |
T |
5: 30,745,730 (GRCm39) |
A24S |
probably damaging |
Het |
| Kif20a |
A |
G |
18: 34,765,664 (GRCm39) |
Y887C |
probably damaging |
Het |
| Klf13 |
T |
C |
7: 63,587,718 (GRCm39) |
T193A |
possibly damaging |
Het |
| Klhl9 |
G |
T |
4: 88,640,144 (GRCm39) |
H32Q |
probably damaging |
Het |
| Kndc1 |
C |
G |
7: 139,481,159 (GRCm39) |
P82A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,602,908 (GRCm39) |
L861Q |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,615,999 (GRCm39) |
E305G |
probably damaging |
Het |
| Mib2 |
C |
A |
4: 155,741,744 (GRCm39) |
A293S |
probably damaging |
Het |
| Mtfr1 |
A |
G |
3: 19,269,766 (GRCm39) |
E138G |
probably damaging |
Het |
| Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,442 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
A |
T |
11: 69,725,104 (GRCm39) |
V54E |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,203,903 (GRCm39) |
I668L |
probably damaging |
Het |
| Npy6r |
T |
A |
18: 44,409,262 (GRCm39) |
C228S |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Nup107 |
T |
C |
10: 117,602,273 (GRCm39) |
I513M |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,261,284 (GRCm39) |
D461G |
probably damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,830 (GRCm39) |
F205I |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,831,011 (GRCm39) |
D455G |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,625 (GRCm39) |
T727S |
probably damaging |
Het |
| Pex14 |
G |
A |
4: 149,055,053 (GRCm39) |
A113V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 31,020,031 (GRCm39) |
V23A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,115,406 (GRCm39) |
D56G |
possibly damaging |
Het |
| Plekha7 |
C |
A |
7: 115,836,768 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,422,140 (GRCm39) |
E885G |
probably damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,701 (GRCm39) |
L188P |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,145,881 (GRCm39) |
T762A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,784,318 (GRCm39) |
H964Q |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,161,878 (GRCm39) |
V51I |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,243,721 (GRCm39) |
L15P |
probably benign |
Het |
| Ren1 |
T |
C |
1: 133,282,546 (GRCm39) |
Y84H |
probably damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,547,577 (GRCm39) |
I311N |
probably damaging |
Het |
| Samd14 |
T |
A |
11: 94,912,361 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,026,403 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
T |
12: 104,004,611 (GRCm39) |
L7Q |
unknown |
Het |
| Serpinb9d |
A |
T |
13: 33,384,599 (GRCm39) |
E192V |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,146,655 (GRCm39) |
F382L |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,220,035 (GRCm39) |
D375V |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,678,064 (GRCm39) |
Y683F |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,531,819 (GRCm39) |
Y257N |
probably benign |
Het |
| Sugp2 |
A |
G |
8: 70,704,548 (GRCm39) |
H695R |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,068,526 (GRCm39) |
R3087* |
probably null |
Het |
| Syngr2 |
T |
C |
11: 117,703,947 (GRCm39) |
V138A |
probably damaging |
Het |
| Thra |
T |
C |
11: 98,655,310 (GRCm39) |
F397L |
probably benign |
Het |
| Tmem45b |
T |
A |
9: 31,339,951 (GRCm39) |
I149F |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,687,553 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 188,183,995 (GRCm39) |
T1433I |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,820 (GRCm39) |
Y178* |
probably null |
Het |
| Vmn2r84 |
T |
G |
10: 130,226,582 (GRCm39) |
M419L |
probably benign |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,343,747 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,995,145 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
T |
G |
7: 29,697,617 (GRCm39) |
F100V |
probably benign |
Het |
| Zfp667 |
T |
A |
7: 6,293,624 (GRCm39) |
D41E |
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 |
|
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'- CCTTCAGTTACTGGAGTCTGGAC -3'
(R):5'- CACTGTAGACCCTACATCCATG -3'
Sequencing Primer
(F):5'- AGTTTAGACTTCTAGCACAGTTCC -3'
(R):5'- CCATGAACATAGTCTAAGAACTGCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation