Incidental Mutation 'R6505:Cemip'
| ID |
523732 |
| 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 |
044637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83582065-83735710 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 83600805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 939
(G939*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064174]
|
| AlphaFold |
Q8BI06 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064174
AA Change: G939*
|
| SMART Domains |
Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: G939*
| 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: ENSMUST00000142518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150495
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (84/84) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 9,220,772 (GRCm39) |
I424L |
probably benign |
Het |
| 2610028H24Rik |
C |
T |
10: 76,285,115 (GRCm39) |
A8V |
probably benign |
Het |
| Ago1 |
G |
A |
4: 126,357,628 (GRCm39) |
P16S |
probably benign |
Het |
| Ak5 |
C |
T |
3: 152,187,306 (GRCm39) |
E394K |
probably benign |
Het |
| Aldh7a1 |
T |
C |
18: 56,660,068 (GRCm39) |
Y498C |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,141,030 (GRCm39) |
D335V |
probably damaging |
Het |
| Alx4 |
A |
T |
2: 93,498,904 (GRCm39) |
Y212F |
probably damaging |
Het |
| Asb16 |
A |
G |
11: 102,167,303 (GRCm39) |
E223G |
probably damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,575 (GRCm39) |
V235M |
probably damaging |
Het |
| BB014433 |
A |
G |
8: 15,092,304 (GRCm39) |
V183A |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,414,367 (GRCm39) |
M1256L |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,977,932 (GRCm39) |
I94V |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,599 (GRCm39) |
L206P |
probably benign |
Het |
| Cabs1 |
T |
A |
5: 88,128,522 (GRCm39) |
M391K |
possibly damaging |
Het |
| Cars1 |
C |
T |
7: 143,118,744 (GRCm39) |
R599Q |
probably damaging |
Het |
| Ccdc190 |
T |
A |
1: 169,760,592 (GRCm39) |
Y73* |
probably null |
Het |
| Cd177 |
A |
C |
7: 24,443,671 (GRCm39) |
L809W |
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,531,020 (GRCm39) |
I777F |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,211,236 (GRCm39) |
I176T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,554,887 (GRCm39) |
T2064S |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,262,805 (GRCm39) |
N860S |
probably damaging |
Het |
| Dab1 |
T |
A |
4: 104,369,461 (GRCm39) |
C3S |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,174,918 (GRCm39) |
E50G |
probably damaging |
Het |
| Dis3l |
A |
T |
9: 64,214,795 (GRCm39) |
S925T |
probably benign |
Het |
| Disp1 |
T |
C |
1: 182,868,076 (GRCm39) |
N1448S |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,264,580 (GRCm39) |
I747M |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,551,522 (GRCm39) |
K36* |
probably null |
Het |
| Fam135a |
C |
T |
1: 24,053,953 (GRCm39) |
V1195I |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,376,947 (GRCm39) |
Y234* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,942 (GRCm39) |
N353K |
possibly damaging |
Het |
| Furin |
C |
A |
7: 80,043,365 (GRCm39) |
R282L |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
A |
G |
14: 44,568,828 (GRCm39) |
*265Q |
probably null |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,379 (GRCm39) |
T15S |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
| Il18r1 |
A |
T |
1: 40,528,867 (GRCm39) |
I304L |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,281,922 (GRCm39) |
Y185N |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,395,507 (GRCm39) |
C536Y |
probably damaging |
Het |
| Ivns1abp |
T |
C |
1: 151,236,744 (GRCm39) |
M435T |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,647,911 (GRCm39) |
N151D |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,628,405 (GRCm39) |
M1499T |
probably benign |
Het |
| Lamb1 |
A |
T |
12: 31,373,461 (GRCm39) |
T1397S |
possibly damaging |
Het |
| Leng1 |
G |
A |
7: 3,664,211 (GRCm39) |
R239* |
probably null |
Het |
| Map2k4 |
A |
T |
11: 65,584,355 (GRCm39) |
N309K |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,873,768 (GRCm39) |
F784S |
probably damaging |
Het |
| Mrgpra9 |
T |
A |
7: 46,884,884 (GRCm39) |
N260I |
probably benign |
Het |
| Mrnip |
C |
A |
11: 50,090,679 (GRCm39) |
T281N |
possibly damaging |
Het |
| Myo9b |
A |
G |
8: 71,808,501 (GRCm39) |
T1715A |
possibly damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,184 (GRCm39) |
I406T |
possibly damaging |
Het |
| Neto1 |
A |
G |
18: 86,516,699 (GRCm39) |
T339A |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,025 (GRCm39) |
D541G |
probably damaging |
Het |
| Nuak2 |
C |
A |
1: 132,244,132 (GRCm39) |
H55Q |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,582,439 (GRCm39) |
T118A |
probably benign |
Het |
| Or11i1 |
T |
G |
3: 106,729,638 (GRCm39) |
N79T |
possibly damaging |
Het |
| Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,858 (GRCm39) |
T76S |
probably damaging |
Het |
| Or52e19 |
C |
A |
7: 102,959,000 (GRCm39) |
A24D |
probably benign |
Het |
| Or5d16 |
A |
T |
2: 87,773,518 (GRCm39) |
Y151* |
probably null |
Het |
| Or5p59 |
T |
C |
7: 107,702,774 (GRCm39) |
V86A |
probably benign |
Het |
| Or6d13 |
C |
T |
6: 116,517,561 (GRCm39) |
T49M |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,784 (GRCm39) |
D20E |
probably benign |
Het |
| Or7g29 |
T |
C |
9: 19,286,237 (GRCm39) |
*313W |
probably null |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,933 (GRCm39) |
H104Q |
probably benign |
Het |
| Phf11a |
T |
C |
14: 59,514,986 (GRCm39) |
R232G |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,383,615 (GRCm39) |
T478I |
probably benign |
Het |
| Prkacb |
T |
A |
3: 146,438,401 (GRCm39) |
E380V |
probably damaging |
Het |
| Prl7c1 |
G |
T |
13: 27,957,776 (GRCm39) |
D221E |
probably damaging |
Het |
| Prr11 |
T |
A |
11: 86,996,950 (GRCm39) |
K5* |
probably null |
Het |
| Prrc2b |
G |
A |
2: 32,112,332 (GRCm39) |
G1932D |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
| Rnf182 |
C |
T |
13: 43,822,147 (GRCm39) |
Q233* |
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
C |
G |
10: 8,605,291 (GRCm39) |
G1033A |
probably benign |
Het |
| Sncaip |
C |
A |
18: 53,039,609 (GRCm39) |
S189* |
probably null |
Het |
| Sorl1 |
T |
C |
9: 41,982,530 (GRCm39) |
Y350C |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Speg |
C |
A |
1: 75,406,167 (GRCm39) |
D3091E |
possibly damaging |
Het |
| Sucnr1 |
A |
T |
3: 59,994,144 (GRCm39) |
D224V |
probably benign |
Het |
| Tg |
G |
A |
15: 66,631,407 (GRCm39) |
A559T |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 127,861,502 (GRCm39) |
I873T |
probably benign |
Het |
| Tmem229a |
C |
T |
6: 24,954,920 (GRCm39) |
C278Y |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,013,364 (GRCm39) |
I205T |
possibly damaging |
Het |
| Usp19 |
T |
A |
9: 108,374,082 (GRCm39) |
L713Q |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,489,824 (GRCm39) |
D530G |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,364,983 (GRCm39) |
S475P |
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 |
|
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'- AGGCTCTCTGAGTCCTTGTCAC -3'
(R):5'- CCATGCGGTTTCCTCTAGTG -3'
Sequencing Primer
(F):5'- ATAGCGCCCACTGCAGATG -3'
(R):5'- GGTTTCCTCTAGTGCCCAAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation