Incidental Mutation 'R8005:Cemip'
| ID |
616567 |
| 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 |
046045-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8005 (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: 99.8%
- 20x: 99.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,774 (GRCm39) |
D294G |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,602,314 (GRCm39) |
S83C |
probably benign |
Het |
| Ankrd34b |
C |
A |
13: 92,575,230 (GRCm39) |
A154E |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,278,341 (GRCm39) |
D1175G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,183 (GRCm39) |
L799F |
probably benign |
Het |
| Aplp1 |
T |
C |
7: 30,135,470 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,059,744 (GRCm39) |
H2742L |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,602,277 (GRCm39) |
Q292* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,830,661 (GRCm39) |
G374D |
probably damaging |
Het |
| B4galt5 |
A |
G |
2: 167,143,384 (GRCm39) |
S347P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,456 (GRCm39) |
T620A |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,450,213 (GRCm39) |
D329V |
probably damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,352,400 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
A |
6: 30,873,632 (GRCm39) |
M1L |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,599 (GRCm39) |
H164Y |
possibly damaging |
Het |
| Dscaml1 |
G |
T |
9: 45,628,808 (GRCm39) |
G1121C |
probably damaging |
Het |
| Gas2l1 |
A |
T |
11: 5,011,552 (GRCm39) |
S426T |
probably benign |
Het |
| Gm9195 |
T |
A |
14: 72,663,840 (GRCm39) |
I2740F |
probably benign |
Het |
| Irgm1 |
A |
G |
11: 48,757,217 (GRCm39) |
I214T |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,655 (GRCm39) |
T343I |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,163,278 (GRCm39) |
Y804N |
probably damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,722 (GRCm39) |
H432R |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,006 (GRCm39) |
I162V |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,482,096 (GRCm39) |
N258I |
probably damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,156 (GRCm39) |
T33A |
probably benign |
Het |
| Or2y1b |
G |
T |
11: 49,208,968 (GRCm39) |
M198I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,631,470 (GRCm39) |
R27G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,693 (GRCm39) |
V54A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,328 (GRCm39) |
V20M |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,922,546 (GRCm39) |
M13K |
unknown |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
C |
7: 116,017,271 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,067 (GRCm39) |
D61V |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pramel17 |
A |
G |
4: 101,694,448 (GRCm39) |
V145A |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,685,144 (GRCm39) |
D256G |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,482,437 (GRCm39) |
D196E |
|
Het |
| Sbf1 |
A |
G |
15: 89,178,408 (GRCm39) |
L1498P |
probably damaging |
Het |
| Sh2b1 |
T |
C |
7: 126,068,479 (GRCm39) |
D444G |
possibly damaging |
Het |
| Slc7a15 |
T |
G |
12: 8,589,395 (GRCm39) |
M51L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,697 (GRCm39) |
I5V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,024,773 (GRCm39) |
C123S |
probably benign |
Het |
| Sry |
C |
T |
Y: 2,663,303 (GRCm39) |
R119K |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,625,681 (GRCm39) |
S1423N |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,686 (GRCm39) |
V24A |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,872,684 (GRCm39) |
M331L |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,755 (GRCm39) |
I170V |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,343,796 (GRCm39) |
S1220R |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,507 (GRCm39) |
M77T |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,821 (GRCm39) |
S771P |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,570 (GRCm39) |
A1423V |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,139,941 (GRCm39) |
Y1175N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,873,956 (GRCm39) |
A511T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,563,124 (GRCm39) |
Y58* |
probably null |
Het |
| Wt1 |
T |
C |
2: 104,957,789 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,603,140 (GRCm39) |
K695* |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,568 (GRCm39) |
F321S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,064 (GRCm39) |
E364G |
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 |
|
|
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 |
|
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'- TTCAGTGAGGACCCTACCTGAG -3'
(R):5'- TGACCGAGTTTGCATGTCTG -3'
Sequencing Primer
(F):5'- TACCTGAGAGACTCCCTGTG -3'
(R):5'- GCCCTGACTCATAGTAGGTGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation