Incidental Mutation 'R7962:Cemip'
| ID |
650166 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7962 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to A
at 83652616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064174
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,428 (GRCm39) |
F991L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,164 (GRCm39) |
D3816G |
unknown |
Het |
| Arhgdig |
T |
C |
17: 26,418,608 (GRCm39) |
T153A |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,310,162 (GRCm39) |
K497R |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,736,177 (GRCm39) |
H312R |
probably damaging |
Het |
| Cbr2 |
T |
C |
11: 120,620,609 (GRCm39) |
D225G |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,486,854 (GRCm39) |
T275M |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,622,421 (GRCm39) |
D548G |
possibly damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,738,135 (GRCm39) |
I57L |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,552,199 (GRCm39) |
G149S |
probably benign |
Het |
| Dennd2a |
A |
G |
6: 39,457,207 (GRCm39) |
V745A |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,564,085 (GRCm39) |
S509R |
possibly damaging |
Het |
| Enpp3 |
T |
C |
10: 24,660,752 (GRCm39) |
Y630C |
probably damaging |
Het |
| Eomes |
C |
T |
9: 118,307,574 (GRCm39) |
|
probably benign |
Het |
| Fchsd1 |
A |
T |
18: 38,097,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,193,984 (GRCm39) |
H34L |
unknown |
Het |
| Frs3 |
G |
T |
17: 48,010,463 (GRCm39) |
E32D |
possibly damaging |
Het |
| Gm14443 |
C |
T |
2: 175,012,035 (GRCm39) |
C137Y |
probably benign |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Havcr1 |
T |
A |
11: 46,643,402 (GRCm39) |
C107* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,448,692 (GRCm39) |
R347W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,684,841 (GRCm39) |
|
probably null |
Het |
| Irs1 |
C |
T |
1: 82,266,443 (GRCm39) |
R591H |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,241,040 (GRCm39) |
V23A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,242,501 (GRCm39) |
I339F |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,058,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,899,952 (GRCm39) |
S223P |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,574,623 (GRCm39) |
M857V |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,315,691 (GRCm39) |
M1L |
not run |
Het |
| Prss3b |
A |
C |
6: 41,012,387 (GRCm39) |
F9C |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,887,007 (GRCm39) |
V202E |
possibly damaging |
Het |
| Rab3d |
G |
A |
9: 21,826,229 (GRCm39) |
R93C |
probably damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,167,300 (GRCm39) |
Y258D |
probably damaging |
Het |
| Rassf8 |
G |
A |
6: 145,761,669 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
A |
C |
14: 59,459,016 (GRCm39) |
S199R |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,964,288 (GRCm39) |
V45G |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,269,776 (GRCm39) |
G69E |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,158,786 (GRCm39) |
L378P |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,719 (GRCm39) |
N113K |
probably benign |
Het |
| Slc35c2 |
C |
T |
2: 165,119,462 (GRCm39) |
D293N |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,324,325 (GRCm39) |
S308T |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,463,388 (GRCm39) |
V60E |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,341 (GRCm39) |
V276D |
probably damaging |
Het |
| Snx29 |
G |
A |
16: 11,231,221 (GRCm39) |
|
probably null |
Het |
| Spata24 |
T |
C |
18: 35,795,093 (GRCm39) |
E30G |
probably damaging |
Het |
| Stard13 |
T |
A |
5: 150,975,838 (GRCm39) |
I777F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,635 (GRCm39) |
C8R |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,307 (GRCm39) |
V281A |
probably damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,567,879 (GRCm39) |
G283R |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,738,388 (GRCm39) |
V457M |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,728,000 (GRCm39) |
S861T |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,154,210 (GRCm39) |
S738* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
A |
T |
18: 64,037,157 (GRCm39) |
S1194C |
probably damaging |
Het |
| Zyx |
A |
C |
6: 42,333,505 (GRCm39) |
D477A |
probably 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 |
|
|
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 |
|
|
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'- TGTTCAGTGAGGACCCTACCTG -3'
(R):5'- ACCGAGTTTGCATGTCTGGC -3'
Sequencing Primer
(F):5'- TACCTGAGAGACTCCCTGTG -3'
(R):5'- GCCCTGACTCATAGTAGGTGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation