Mutagenetix > Incidental Mutation

Incidental Mutation 'R8496:Cemip'

658273

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

067938-MU

Accession Numbers

Essential gene?

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

Stock #

R8496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83600634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 996 (I996V)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably benign
Transcript: ENSMUST00000064174
AA Change: I996V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: I996V

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: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,120 (GRCm39)	E335G	probably benign	Het
Afp	C	T	5: 90,639,572 (GRCm39)	S34F	probably damaging	Het
Ano6	T	A	15: 95,847,807 (GRCm39)	I639N	probably damaging	Het
Atp13a1	T	G	8: 70,250,618 (GRCm39)	V411G	probably damaging	Het
Cadm2	A	T	16: 66,461,309 (GRCm39)	C383S	probably damaging	Het
Capn2	T	C	1: 182,304,840 (GRCm39)	I556V	probably benign	Het
Cd34	A	G	1: 194,642,089 (GRCm39)	E322G	probably benign	Het
Cel	T	C	2: 28,446,200 (GRCm39)	D557G	probably benign	Het
Clca3a1	A	T	3: 144,453,182 (GRCm39)	*514R	probably null	Het
Cry2	C	G	2: 92,257,284 (GRCm39)	R95P	probably damaging	Het
Ctse	T	A	1: 131,592,118 (GRCm39)	I148N	probably damaging	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dsn1	C	T	2: 156,839,640 (GRCm39)	V254M	probably benign	Het
Fcgbpl1	A	G	7: 27,843,377 (GRCm39)	D755G	possibly damaging	Het
Gm4847	T	A	1: 166,469,761 (GRCm39)	H104L	possibly damaging	Het
Gpr88	T	C	3: 116,046,117 (GRCm39)	T65A	possibly damaging	Het
Gtse1	A	G	15: 85,746,283 (GRCm39)	D33G	probably damaging	Het
Ints6	A	G	14: 62,943,325 (GRCm39)	Y455H	probably benign	Het
Kctd1	A	T	18: 15,107,228 (GRCm39)	C150S	probably damaging	Het
Kctd11	T	G	11: 69,770,877 (GRCm39)	T54P	probably damaging	Het
Kif1b	C	A	4: 149,277,068 (GRCm39)	G56*	probably null	Het
Kifap3	T	A	1: 163,656,866 (GRCm39)		probably null	Het
Naip5	G	T	13: 100,349,247 (GRCm39)	H1360Q	probably benign	Het
Ncapd2	T	C	6: 125,147,127 (GRCm39)	E1198G	probably damaging	Het
Nova1	T	A	12: 46,760,325 (GRCm39)	K90*	probably null	Het
Odc1	T	A	12: 17,598,396 (GRCm39)	L179H	probably damaging	Het
Or10w1	T	A	19: 13,632,388 (GRCm39)	H193Q	probably damaging	Het
Or1ad8	T	C	11: 50,897,877 (GRCm39)	V26A	probably benign	Het
Or1s2	A	G	19: 13,758,384 (GRCm39)	N136S	probably benign	Het
Palm	C	T	10: 79,642,485 (GRCm39)	T6I	probably benign	Het
Parp10	T	A	15: 76,117,749 (GRCm39)	D879V	probably damaging	Het
Phf2	A	G	13: 48,971,181 (GRCm39)	V497A	unknown	Het
Pparg	A	G	6: 115,440,112 (GRCm39)	I199V	probably benign	Het
Ppm1b	T	A	17: 85,301,660 (GRCm39)	I180N	probably damaging	Het
Prdx5	A	T	19: 6,885,542 (GRCm39)	C37*	probably null	Het
Ptprz1	A	T	6: 22,972,797 (GRCm39)	T236S	probably damaging	Het
Rab5b	G	A	10: 128,518,776 (GRCm39)	Q119*	probably null	Het
Rdh19	T	A	10: 127,695,469 (GRCm39)	W228R	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Secisbp2	T	C	13: 51,819,383 (GRCm39)	V321A	probably damaging	Het
Slc6a5	T	A	7: 49,585,960 (GRCm39)	V426D	probably damaging	Het
Syne1	T	A	10: 5,178,896 (GRCm39)	E4526V	probably damaging	Het
Syne1	T	C	10: 5,268,441 (GRCm39)	K2083E	probably damaging	Het
Tecta	T	A	9: 42,241,547 (GRCm39)	I2143F	probably benign	Het
Tfap4	T	C	16: 4,369,170 (GRCm39)	D90G	probably damaging	Het
Ttll12	T	C	15: 83,462,010 (GRCm39)	Y569C	probably damaging	Het
Zfp326	T	G	5: 106,036,451 (GRCm39)	S121A	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
R8492:Cemip	UTSW	7	83,622,422 (GRCm39)	missense	probably damaging	0.99
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'- TCACAGAACTTTGGCTTTTAGC -3'
(R):5'- AGAGTGTTCTTCGGAGAGCC -3'

Sequencing Primer
(F):5'- ACCCAGTACAGTGTGTTGAC -3'
(R):5'- CCGGGCCCTGGTTCAAC -3'

Posted On

2021-01-18