Incidental Mutation 'R4849:Cemip'
| ID |
373393 |
| 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 |
042461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83584945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1324
(F1324L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064174
AA Change: F1324L
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: F1324L
| 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: ENSMUST00000145171
|
| Meta Mutation Damage Score |
0.0905 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
T |
7: 28,314,877 (GRCm39) |
R239S |
possibly damaging |
Het |
| Angptl1 |
C |
A |
1: 156,684,735 (GRCm39) |
N301K |
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,509,257 (GRCm39) |
T603S |
probably benign |
Het |
| App |
T |
C |
16: 84,853,322 (GRCm39) |
D252G |
unknown |
Het |
| Atxn3 |
A |
G |
12: 101,900,627 (GRCm39) |
S219P |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,954,383 (GRCm39) |
S3397P |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,182,033 (GRCm39) |
I414V |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,616 (GRCm39) |
N1724K |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,460,178 (GRCm39) |
M1035L |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,709,094 (GRCm39) |
I711T |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,349,415 (GRCm39) |
W98R |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,130,367 (GRCm39) |
S580P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,723,068 (GRCm39) |
|
probably null |
Het |
| Dusp15 |
T |
A |
2: 152,791,002 (GRCm39) |
T32S |
probably damaging |
Het |
| Eogt |
T |
A |
6: 97,093,016 (GRCm39) |
N387I |
probably damaging |
Het |
| Evx2 |
T |
C |
2: 74,489,675 (GRCm39) |
D29G |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,466,007 (GRCm39) |
N1422S |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,201,463 (GRCm39) |
D537G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,289,244 (GRCm39) |
I93S |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,704,576 (GRCm39) |
E228G |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,448,072 (GRCm39) |
T25A |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,514,097 (GRCm39) |
W695R |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,163,813 (GRCm39) |
V222I |
possibly damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,251,947 (GRCm39) |
|
probably null |
Het |
| Gipc1 |
A |
G |
8: 84,388,756 (GRCm39) |
Y154C |
probably benign |
Het |
| Gm5356 |
G |
T |
8: 89,913,670 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
A |
17: 36,298,603 (GRCm39) |
|
probably null |
Het |
| Gpcpd1 |
C |
T |
2: 132,376,019 (GRCm39) |
G605R |
probably damaging |
Het |
| Guca1a |
T |
C |
17: 47,705,662 (GRCm39) |
T177A |
possibly damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,076 (GRCm39) |
E127G |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,729,282 (GRCm39) |
I350N |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Ing4 |
A |
G |
6: 125,020,946 (GRCm39) |
R23G |
probably damaging |
Het |
| Ins1 |
A |
G |
19: 52,253,384 (GRCm39) |
N108S |
probably damaging |
Het |
| Iqce |
A |
T |
5: 140,679,214 (GRCm39) |
M72K |
possibly damaging |
Het |
| Itga3 |
C |
A |
11: 94,967,097 (GRCm39) |
M22I |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 58,001,152 (GRCm39) |
E201G |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,748,129 (GRCm39) |
N344S |
probably damaging |
Het |
| Klrb1f |
A |
T |
6: 129,033,347 (GRCm39) |
I192F |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,214 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
A |
C |
5: 123,897,128 (GRCm39) |
I164L |
probably benign |
Het |
| Ltf |
T |
A |
9: 110,855,058 (GRCm39) |
I357K |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,006,436 (GRCm39) |
T304A |
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,290,947 (GRCm39) |
R178C |
possibly damaging |
Het |
| Mtch1 |
T |
C |
17: 29,566,565 (GRCm39) |
D66G |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,062,040 (GRCm39) |
V15A |
probably benign |
Het |
| Mtss2 |
A |
T |
8: 111,452,875 (GRCm39) |
H40L |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,925,331 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,075,253 (GRCm39) |
L535P |
probably damaging |
Het |
| Neurl2 |
T |
A |
2: 164,674,739 (GRCm39) |
|
probably null |
Het |
| Nfia |
A |
C |
4: 97,970,048 (GRCm39) |
T503P |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,179 (GRCm39) |
E487G |
possibly damaging |
Het |
| Nuak1 |
A |
T |
10: 84,211,143 (GRCm39) |
V315D |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,207,505 (GRCm39) |
N1519S |
possibly damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,966 (GRCm39) |
I161K |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,266 (GRCm39) |
L14P |
probably damaging |
Het |
| Or1o1 |
T |
C |
17: 37,716,589 (GRCm39) |
V50A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,526 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or6b13 |
G |
T |
7: 139,782,340 (GRCm39) |
C114* |
probably null |
Het |
| Or9s18 |
G |
A |
13: 65,300,493 (GRCm39) |
V152M |
possibly damaging |
Het |
| Peli1 |
T |
A |
11: 21,098,528 (GRCm39) |
|
probably benign |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,206 (GRCm39) |
L175P |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
| Prss30 |
T |
A |
17: 24,191,769 (GRCm39) |
I251F |
probably benign |
Het |
| Psme3 |
A |
T |
11: 101,207,907 (GRCm39) |
N21Y |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,374,081 (GRCm39) |
Y271H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,745,588 (GRCm39) |
N1303Y |
probably damaging |
Het |
| Rims4 |
T |
C |
2: 163,707,463 (GRCm39) |
I121V |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,933,290 (GRCm39) |
L1149Q |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,738,807 (GRCm39) |
L593F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,519 (GRCm39) |
F582S |
probably damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,940,297 (GRCm39) |
K335R |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,451,163 (GRCm39) |
T141I |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,637,983 (GRCm39) |
A270E |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,674,613 (GRCm39) |
T533A |
possibly damaging |
Het |
| Sphkap |
T |
G |
1: 83,255,105 (GRCm39) |
E881D |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 29,901,054 (GRCm39) |
R1407S |
probably damaging |
Het |
| Tfdp1 |
A |
G |
8: 13,423,895 (GRCm39) |
T353A |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,125,533 (GRCm39) |
I62V |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
| Zfp398 |
T |
C |
6: 47,836,446 (GRCm39) |
I82T |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,896,198 (GRCm39) |
Y176H |
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 |
|
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'- GATATCTGTCCCTTAGCCCAGC -3'
(R):5'- CATGAGGCTCAAGAGTGATAGC -3'
Sequencing Primer
(F):5'- TCCCTTAGCCCAGCAGAGC -3'
(R):5'- GGCTCAAGAGTGATAGCTACAAACC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation