Incidental Mutation 'R7988:Cemip'
ID |
651591 |
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 |
046029-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7988 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
C |
T |
6: 72,324,635 (GRCm39) |
T56M |
probably damaging |
Het |
Adamtsl5 |
C |
T |
10: 80,181,372 (GRCm39) |
S36N |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,750,704 (GRCm39) |
|
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,210 (GRCm39) |
F200S |
probably damaging |
Het |
Akr1cl |
T |
C |
1: 65,063,865 (GRCm39) |
D108G |
possibly damaging |
Het |
Aopep |
A |
G |
13: 63,208,954 (GRCm39) |
D357G |
probably benign |
Het |
Arhgef3 |
A |
T |
14: 27,123,743 (GRCm39) |
D468V |
probably benign |
Het |
Aspn |
T |
C |
13: 49,705,353 (GRCm39) |
C72R |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,792,485 (GRCm39) |
T548A |
possibly damaging |
Het |
Birc6 |
G |
A |
17: 74,906,368 (GRCm39) |
|
probably null |
Het |
Btnl2 |
A |
T |
17: 34,577,249 (GRCm39) |
T135S |
possibly damaging |
Het |
Ccnl1 |
T |
A |
3: 65,865,282 (GRCm39) |
I90F |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,463,024 (GRCm39) |
|
probably null |
Het |
Cfap45 |
A |
G |
1: 172,357,501 (GRCm39) |
D85G |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,737,941 (GRCm39) |
D2319V |
unknown |
Het |
Cma1 |
T |
C |
14: 56,181,989 (GRCm39) |
M14V |
possibly damaging |
Het |
Cmtm1 |
T |
C |
8: 105,036,774 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,249,559 (GRCm39) |
H1738R |
unknown |
Het |
Colq |
T |
A |
14: 31,275,794 (GRCm39) |
D41V |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,337,166 (GRCm39) |
T2437A |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,611,139 (GRCm39) |
D3755G |
probably damaging |
Het |
Eprs1 |
A |
G |
1: 185,150,545 (GRCm39) |
Y1349C |
probably damaging |
Het |
Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
Fbf1 |
T |
C |
11: 116,043,594 (GRCm39) |
D405G |
probably benign |
Het |
Fen1 |
C |
T |
19: 10,177,674 (GRCm39) |
E257K |
possibly damaging |
Het |
Gstm7 |
A |
T |
3: 107,834,271 (GRCm39) |
M198K |
possibly damaging |
Het |
Hook3 |
A |
T |
8: 26,563,675 (GRCm39) |
S190T |
probably benign |
Het |
Htra4 |
A |
C |
8: 25,520,526 (GRCm39) |
|
probably null |
Het |
Ighv1-15 |
T |
C |
12: 114,621,116 (GRCm39) |
I70V |
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,470,324 (GRCm39) |
N452Y |
probably damaging |
Het |
Insyn2a |
T |
G |
7: 134,519,427 (GRCm39) |
K368Q |
probably damaging |
Het |
Iqcf5 |
T |
A |
9: 106,393,020 (GRCm39) |
N92K |
possibly damaging |
Het |
Itk |
A |
G |
11: 46,246,661 (GRCm39) |
Y186H |
probably damaging |
Het |
Klhdc10 |
T |
C |
6: 30,446,690 (GRCm39) |
S282P |
probably benign |
Het |
Klhl18 |
T |
A |
9: 110,305,577 (GRCm39) |
E29V |
possibly damaging |
Het |
Ky |
T |
C |
9: 102,402,614 (GRCm39) |
S140P |
probably damaging |
Het |
Lmntd2 |
T |
C |
7: 140,793,550 (GRCm39) |
E112G |
unknown |
Het |
Lrrc36 |
C |
A |
8: 106,178,718 (GRCm39) |
D304E |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,400,273 (GRCm39) |
F674Y |
probably damaging |
Het |
Notch1 |
C |
T |
2: 26,361,013 (GRCm39) |
D1111N |
probably benign |
Het |
Osbpl8 |
T |
G |
10: 111,107,941 (GRCm39) |
N312K |
possibly damaging |
Het |
Otogl |
C |
T |
10: 107,731,637 (GRCm39) |
C168Y |
probably damaging |
Het |
Phldb2 |
T |
G |
16: 45,645,934 (GRCm39) |
T171P |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,386,841 (GRCm39) |
F365L |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Ryr1 |
G |
A |
7: 28,795,596 (GRCm39) |
T1105I |
probably benign |
Het |
Sclt1 |
T |
A |
3: 41,617,889 (GRCm39) |
*29L |
probably null |
Het |
Scn11a |
T |
C |
9: 119,594,503 (GRCm39) |
K1297E |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,334,262 (GRCm39) |
Y288F |
probably benign |
Het |
Setd1a |
T |
A |
7: 127,385,366 (GRCm39) |
M691K |
probably benign |
Het |
Sftpc |
T |
C |
14: 70,760,059 (GRCm39) |
E66G |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,131,934 (GRCm39) |
I359V |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,118,303 (GRCm39) |
T42A |
probably benign |
Het |
Tram1 |
T |
C |
1: 13,640,199 (GRCm39) |
D285G |
probably benign |
Het |
Ttn |
G |
A |
2: 76,675,374 (GRCm39) |
P11137L |
unknown |
Het |
Ttn |
C |
A |
2: 76,727,103 (GRCm39) |
V5821F |
unknown |
Het |
Ttn |
A |
T |
2: 76,566,584 (GRCm39) |
I28103K |
probably damaging |
Het |
Usp38 |
T |
A |
8: 81,740,945 (GRCm39) |
M41L |
probably benign |
Het |
Zcwpw1 |
T |
G |
5: 137,815,753 (GRCm39) |
Y419D |
possibly damaging |
Het |
Zfp407 |
G |
A |
18: 84,577,525 (GRCm39) |
A1196V |
possibly damaging |
Het |
Zfp446 |
T |
A |
7: 12,712,970 (GRCm39) |
S103T |
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 |
|
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 |
|
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'- AGGATGAGGCTTGCCAGAATC -3'
(R):5'- TGGCCCTGACTCATAGTAGG -3'
Sequencing Primer
(F):5'- TGCCAGAATCCAAGGTGTTC -3'
(R):5'- CCCTGACTCATAGTAGGTGAGG -3'
|
Posted On |
2020-09-15 |