Mutagenetix > Incidental Mutation

Incidental Mutation 'R8172:Cemip'

634194

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

067598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83646433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 205 (D205V)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064174]

AlphaFold

Q8BI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000064174
AA Change: D205V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: D205V

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: 99.3%
20x: 97.6%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	A	16: 34,977,427 (GRCm39)	L320Q	probably damaging	Het
Adgre4	A	T	17: 56,104,769 (GRCm39)	L278F	probably benign	Het
Agfg2	C	A	5: 137,665,431 (GRCm39)	R108L	probably damaging	Het
Arap2	A	T	5: 62,779,324 (GRCm39)		probably null	Het
Ascl2	G	T	7: 142,522,336 (GRCm39)	N37K	possibly damaging	Het
Baiap3	C	A	17: 25,463,096 (GRCm39)	D1043Y	probably damaging	Het
Cby2	T	A	14: 75,829,241 (GRCm39)		probably null	Het
Ccdc18	T	C	5: 108,311,640 (GRCm39)		probably null	Het
Cenpn	G	A	8: 117,658,333 (GRCm39)	G93D	probably benign	Het
Clpsl2	T	A	17: 28,768,556 (GRCm39)	S23R	possibly damaging	Het
Cnot3	T	A	7: 3,661,724 (GRCm39)	I672N	possibly damaging	Het
Crygs	A	G	16: 22,625,292 (GRCm39)	Y50H	probably damaging	Het
Cyp4x1	T	C	4: 114,968,874 (GRCm39)	T403A	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Fam184b	C	T	5: 45,741,709 (GRCm39)	G174D	possibly damaging	Het
Fat2	T	A	11: 55,178,638 (GRCm39)	D1474V	probably damaging	Het
Flg2	T	A	3: 93,108,468 (GRCm39)	D165E	possibly damaging	Het
Fpr-rs7	A	T	17: 20,334,443 (GRCm39)	F16I	probably benign	Het
Gpr176	G	A	2: 118,114,615 (GRCm39)	T65I	probably damaging	Het
H2-Q10	C	T	17: 35,781,996 (GRCm39)	T206I	probably null	Het
Hadha	C	G	5: 30,350,285 (GRCm39)	A88P	probably damaging	Het
Hlcs	A	T	16: 94,068,485 (GRCm39)	L245Q	probably damaging	Het
Hnrnph1	T	C	11: 50,270,732 (GRCm39)	V113A	probably damaging	Het
Hsd3b7	G	A	7: 127,401,546 (GRCm39)	V224M	probably damaging	Het
Igha	T	C	12: 113,223,592 (GRCm39)	D88G		Het
Iqca1l	T	C	5: 24,748,608 (GRCm39)	M803V	probably benign	Het
Kdm7a	T	C	6: 39,125,965 (GRCm39)	K610R	probably benign	Het
Krt87	C	T	15: 101,383,284 (GRCm39)	C474Y	probably benign	Het
Lrrc74a	T	A	12: 86,788,530 (GRCm39)	L170H	probably damaging	Het
Lyg2	T	C	1: 37,946,748 (GRCm39)	T178A	probably benign	Het
Map2k2	T	A	10: 80,959,442 (GRCm39)		probably null	Het
Mast4	C	T	13: 103,089,633 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,216,529 (GRCm39)	D8E	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Oga	C	T	19: 45,765,339 (GRCm39)	R156H	probably damaging	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or4c105	A	T	2: 88,647,986 (GRCm39)	Q157L	probably damaging	Het
Poc1b	C	A	10: 98,980,338 (GRCm39)		probably null	Het
Proser1	T	A	3: 53,386,272 (GRCm39)	V718E	possibly damaging	Het
Ptgr2	T	A	12: 84,360,783 (GRCm39)	L351Q	possibly damaging	Het
Ptprf	A	G	4: 118,068,275 (GRCm39)	Y1754H	probably benign	Het
Scgb2b3	T	C	7: 31,058,476 (GRCm39)	K109R	possibly damaging	Het
Scn2a	A	T	2: 65,520,672 (GRCm39)	H556L	probably benign	Het
Scn7a	A	T	2: 66,506,191 (GRCm39)	M1566K	possibly damaging	Het
Slco5a1	A	T	1: 13,060,490 (GRCm39)	L77*	probably null	Het
Stk31	T	C	6: 49,394,261 (GRCm39)	F208L	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tbx4	A	G	11: 85,801,933 (GRCm39)	I189V	probably benign	Het
Tia1	T	A	6: 86,404,682 (GRCm39)	Y306N	probably benign	Het
Ttc21b	T	A	2: 66,082,500 (GRCm39)	Y33F	probably benign	Het
Usp47	T	A	7: 111,687,133 (GRCm39)	L677*	probably null	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
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'- ATTCCACGATGCCTTTCACG -3'
(R):5'- GGCACTCTTGAATTACATGGGC -3'

Sequencing Primer
(F):5'- TATCACCAGCTATCATCACTTGAAG -3'
(R):5'- TACATGGGCAGAAAAAGCTTTCCTG -3'

Posted On

2020-07-13