Incidental Mutation 'R8492:Cemip'
ID |
658047 |
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 |
067934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R8492 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83622422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 586
(F586L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
AlphaFold |
Q8BI06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064174
AA Change: F586L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063277 Gene: ENSMUSG00000052353 AA Change: F586L
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: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
G |
A |
10: 29,094,243 (GRCm39) |
R43K |
possibly damaging |
Het |
Abcc2 |
A |
T |
19: 43,793,410 (GRCm39) |
Y354F |
probably benign |
Het |
Aloxe3 |
A |
T |
11: 69,017,301 (GRCm39) |
T25S |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,250,503 (GRCm39) |
K414E |
probably damaging |
Het |
Ankmy2 |
A |
T |
12: 36,226,590 (GRCm39) |
I95F |
probably damaging |
Het |
Ankrd35 |
T |
G |
3: 96,589,529 (GRCm39) |
|
probably null |
Het |
Ap3b1 |
A |
G |
13: 94,531,294 (GRCm39) |
N91S |
possibly damaging |
Het |
Apip |
T |
A |
2: 102,922,866 (GRCm39) |
L228H |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,365,847 (GRCm39) |
Y488C |
probably damaging |
Het |
Asah2 |
G |
A |
19: 31,983,659 (GRCm39) |
T595M |
probably benign |
Het |
Ccdc174 |
G |
C |
6: 91,865,138 (GRCm39) |
R132T |
probably benign |
Het |
Ccng2 |
A |
C |
5: 93,419,313 (GRCm39) |
H233P |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,390,926 (GRCm39) |
S969P |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,711,134 (GRCm39) |
D1505N |
probably damaging |
Het |
Colec12 |
T |
A |
18: 9,876,980 (GRCm39) |
|
probably null |
Het |
Cytip |
A |
G |
2: 58,027,869 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,167,525 (GRCm39) |
S1026T |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,817,177 (GRCm39) |
D372E |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,828,271 (GRCm39) |
M560L |
possibly damaging |
Het |
Dync2li1 |
C |
A |
17: 84,957,134 (GRCm39) |
|
probably null |
Het |
Eif3c |
C |
T |
7: 126,162,282 (GRCm39) |
G180D |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
G6pc2 |
A |
G |
2: 69,050,586 (GRCm39) |
I70M |
probably damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,681 (GRCm39) |
I20F |
probably damaging |
Het |
Hba-x |
T |
A |
11: 32,227,921 (GRCm39) |
F128L |
probably benign |
Het |
Hspb1 |
G |
A |
5: 135,918,222 (GRCm39) |
E190K |
possibly damaging |
Het |
Ift122 |
T |
A |
6: 115,863,966 (GRCm39) |
S246T |
probably benign |
Het |
Inppl1 |
A |
T |
7: 101,475,985 (GRCm39) |
S828T |
probably damaging |
Het |
Krt84 |
C |
A |
15: 101,438,051 (GRCm39) |
Q301H |
probably damaging |
Het |
Malrd1 |
T |
G |
2: 15,614,934 (GRCm39) |
S250A |
|
Het |
Mettl21e |
A |
G |
1: 44,245,553 (GRCm39) |
I231T |
probably damaging |
Het |
Miip |
T |
C |
4: 147,945,881 (GRCm39) |
D341G |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,313,473 (GRCm39) |
D1287G |
probably damaging |
Het |
Ndufb5 |
T |
G |
3: 32,805,377 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,203,224 (GRCm39) |
E309G |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,299,248 (GRCm39) |
F199I |
probably benign |
Het |
Or12k7 |
T |
A |
2: 36,958,695 (GRCm39) |
I126N |
probably damaging |
Het |
Pcdhgc3 |
T |
A |
18: 37,940,347 (GRCm39) |
Y249* |
probably null |
Het |
Plekhg3 |
G |
T |
12: 76,622,790 (GRCm39) |
V677L |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,733,042 (GRCm39) |
Y25H |
probably damaging |
Het |
Prok2 |
A |
T |
6: 99,691,437 (GRCm39) |
H75Q |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,184,524 (GRCm39) |
H1494Q |
possibly damaging |
Het |
Rapgef6 |
T |
G |
11: 54,581,063 (GRCm39) |
I1277S |
probably damaging |
Het |
Rhob |
G |
T |
12: 8,549,531 (GRCm39) |
Y34* |
probably null |
Het |
Rnf141 |
T |
G |
7: 110,436,407 (GRCm39) |
D7A |
probably benign |
Het |
Robo1 |
T |
C |
16: 72,809,911 (GRCm39) |
S1220P |
probably benign |
Het |
Rpl13a |
A |
G |
7: 44,775,945 (GRCm39) |
V48A |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,587 (GRCm39) |
H362Q |
probably damaging |
Het |
Shld2 |
T |
A |
14: 33,967,189 (GRCm39) |
K122N |
probably damaging |
Het |
Slc22a8 |
G |
T |
19: 8,571,595 (GRCm39) |
V109L |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,564,809 (GRCm39) |
V390A |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,263,869 (GRCm39) |
N839D |
possibly damaging |
Het |
Taf1c |
G |
A |
8: 120,325,456 (GRCm39) |
T802I |
probably benign |
Het |
Tdh |
C |
A |
14: 63,730,269 (GRCm39) |
D337Y |
probably damaging |
Het |
Tmem156 |
A |
T |
5: 65,222,438 (GRCm39) |
Y255N |
possibly damaging |
Het |
Tmpo |
C |
A |
10: 90,997,720 (GRCm39) |
R689L |
probably benign |
Het |
Trim56 |
A |
C |
5: 137,141,783 (GRCm39) |
C578G |
probably benign |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Trpv3 |
G |
A |
11: 73,179,035 (GRCm39) |
W481* |
probably null |
Het |
Tssk3 |
T |
C |
4: 129,383,445 (GRCm39) |
M76V |
probably benign |
Het |
Vmn1r215 |
A |
T |
13: 23,260,056 (GRCm39) |
Y32F |
possibly damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,394 (GRCm39) |
I310T |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,821,470 (GRCm39) |
T148A |
probably benign |
Het |
Zdhhc14 |
G |
A |
17: 5,762,689 (GRCm39) |
V198I |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,927,499 (GRCm39) |
R637G |
possibly damaging |
Het |
Zic5 |
G |
T |
14: 122,702,474 (GRCm39) |
Q86K |
unknown |
Het |
Zzef1 |
T |
A |
11: 72,777,572 (GRCm39) |
M1801K |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,763,430 (GRCm39) |
V1359G |
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 |
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 |
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'- TTCCCAATTTGGCAGCTGGC -3'
(R):5'- TTTGCACTGGGGTTTAAAGC -3'
Sequencing Primer
(F):5'- GCTAACAGTGTTGCACAGATC -3'
(R):5'- GGTTTAAAGCAGCCCACTTG -3'
|
Posted On |
2021-01-18 |