Mutagenetix > Incidental Mutation

Incidental Mutation 'R4911:Cemip'

379525

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

042513-MU

Accession Numbers

Essential gene?

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

Stock #

R4911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83632461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 367 (D367G)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000064174
AA Change: D367G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: D367G

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: ENSMUST00000147578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150495

Meta Mutation Damage Score

0.0957

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (149/153)

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: 132 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,583,224 (GRCm39)	D260G	possibly damaging	Het
Aadacl4	T	A	4: 144,340,362 (GRCm39)	L29H	probably damaging	Het
Abca7	T	C	10: 79,848,022 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,754,832 (GRCm39)	M643I	possibly damaging	Het
Adgrl2	A	T	3: 148,596,099 (GRCm39)	M79K	probably damaging	Het
Ankrd55	T	A	13: 112,459,573 (GRCm39)		probably null	Het
Aopep	A	T	13: 63,318,753 (GRCm39)		probably null	Het
Arhgap21	A	G	2: 20,863,800 (GRCm39)	I1257T	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgap39	A	G	15: 76,622,005 (GRCm39)	S199P	probably damaging	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Atp7a	T	C	X: 105,163,980 (GRCm39)	V1305A	probably damaging	Het
B3gnt3	T	A	8: 72,145,578 (GRCm39)	R263S	probably benign	Het
B9d1	A	C	11: 61,398,497 (GRCm39)	D59A	probably benign	Het
Bag2	A	T	1: 33,787,357 (GRCm39)	I55N	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bbs2	A	T	8: 94,815,743 (GRCm39)	D174E	probably damaging	Het
Bmp8b	T	C	4: 123,009,030 (GRCm39)	W203R	probably damaging	Het
Cacnb2	A	T	2: 14,986,151 (GRCm39)	E359D	possibly damaging	Het
Camp	T	A	9: 109,676,651 (GRCm39)		probably null	Het
Casp4	C	T	9: 5,328,580 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,944 (GRCm39)	T612S	probably benign	Het
Cd209b	T	A	8: 3,976,640 (GRCm39)		probably null	Het
Cers5	T	A	15: 99,644,960 (GRCm39)	N131I	probably damaging	Het
Cfhr4	T	G	1: 139,702,301 (GRCm39)	D61A	probably damaging	Het
Chd5	T	G	4: 152,445,129 (GRCm39)	V370G	probably damaging	Het
Cipc	C	A	12: 86,999,531 (GRCm39)	Q20K	probably benign	Het
Cnr2	T	A	4: 135,644,512 (GRCm39)	F197I	possibly damaging	Het
Col7a1	G	A	9: 108,804,287 (GRCm39)	G2233S	unknown	Het
Dcdc2b	T	A	4: 129,505,060 (GRCm39)	I125F	possibly damaging	Het
Ddi2	A	G	4: 141,411,713 (GRCm39)	S400P	probably benign	Het
Ddx31	C	A	2: 28,794,696 (GRCm39)	T664K	probably benign	Het
Dhx30	C	A	9: 109,929,992 (GRCm39)	G35C	probably damaging	Het
Dmxl2	G	A	9: 54,318,937 (GRCm39)	T1576I	probably damaging	Het
Dnah1	T	C	14: 31,017,280 (GRCm39)	Y1510C	probably damaging	Het
Dnah2	C	T	11: 69,389,930 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,583,953 (GRCm39)	G163C	probably damaging	Het
Edar	T	C	10: 58,457,146 (GRCm39)	N144S	probably benign	Het
Elavl2	T	A	4: 91,196,915 (GRCm39)	E54D	possibly damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Ercc5	C	A	1: 44,206,031 (GRCm39)	H315N	possibly damaging	Het
Esp31	A	G	17: 38,955,552 (GRCm39)	E65G	possibly damaging	Het
Faap100	T	C	11: 120,262,939 (GRCm39)	I806M	probably benign	Het
Fbxw21	T	C	9: 108,974,731 (GRCm39)	Y263C	probably damaging	Het
Fsip2	T	A	2: 82,811,837 (GRCm39)	S2719T	possibly damaging	Het
Fv1	T	C	4: 147,953,875 (GRCm39)	V147A	probably benign	Het
Gal	T	C	19: 3,461,590 (GRCm39)	E65G	probably benign	Het
Galnt2l	A	G	8: 123,807,343 (GRCm39)		probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Gcc2	A	G	10: 58,106,261 (GRCm39)	E399G	probably damaging	Het
Gfi1b	A	T	2: 28,500,114 (GRCm39)	C306S	probably damaging	Het
Gm10654	T	A	8: 71,384,496 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gorasp2	T	C	2: 70,518,683 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,295,205 (GRCm39)		probably benign	Het
H2-D1	A	G	17: 35,484,973 (GRCm39)	E278G	probably damaging	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Hgs	T	A	11: 120,368,028 (GRCm39)	S246T	probably damaging	Het
Hs2st1	T	C	3: 144,170,843 (GRCm39)	T110A	probably benign	Het
Hydin	A	G	8: 111,322,070 (GRCm39)	Y4574C	probably benign	Het
Ighv1-23	C	A	12: 114,728,372 (GRCm39)	V17F	possibly damaging	Het
Ighv8-14	A	T	12: 115,772,185 (GRCm39)		noncoding transcript	Het
Igsf21	C	T	4: 139,761,934 (GRCm39)	R248H	probably benign	Het
Il22b	T	C	10: 118,130,894 (GRCm39)	M1V	probably null	Het
Il23r	T	C	6: 67,400,545 (GRCm39)	N595S	probably benign	Het
Il5ra	G	T	6: 106,692,629 (GRCm39)	P372Q	probably damaging	Het
Inppl1	A	G	7: 101,481,516 (GRCm39)	V222A	possibly damaging	Het
Ints10	T	C	8: 69,279,964 (GRCm39)	V697A	probably damaging	Het
Isg15	T	A	4: 156,284,217 (GRCm39)	T104S	probably benign	Het
Kif11	A	G	19: 37,406,385 (GRCm39)	T983A	probably benign	Het
Kif3b	A	T	2: 153,159,212 (GRCm39)	K338*	probably null	Het
Kpna2	T	A	11: 106,881,545 (GRCm39)	I362F	probably damaging	Het
Lama2	G	A	10: 27,014,923 (GRCm39)	T1595M	probably damaging	Het
Lrrc36	A	G	8: 106,153,567 (GRCm39)	T126A	probably benign	Het
Lrrk1	T	A	7: 65,945,202 (GRCm39)	D604V	probably damaging	Het
Map7d1	T	C	4: 126,130,484 (GRCm39)	K409E	probably damaging	Het
Mast2	T	C	4: 116,210,254 (GRCm39)	T110A	probably benign	Het
Micall2	G	A	5: 139,702,580 (GRCm39)	T221M	probably damaging	Het
Morc2b	T	A	17: 33,356,351 (GRCm39)	N474Y	probably damaging	Het
Myo1e	T	A	9: 70,250,378 (GRCm39)	M528K	probably benign	Het
Nlrp1c-ps	G	T	11: 71,151,195 (GRCm39)		noncoding transcript	Het
Nostrin	T	C	2: 68,991,486 (GRCm39)	S160P	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Or2f2	T	A	6: 42,767,138 (GRCm39)	L55H	probably damaging	Het
Or5p64	T	C	7: 107,855,244 (GRCm39)	I34V	possibly damaging	Het
Or8c16	A	G	9: 38,130,392 (GRCm39)	E91G	probably damaging	Het
Pabpc4l	A	T	3: 46,400,597 (GRCm39)	M349K	possibly damaging	Het
Pah	G	A	10: 87,406,129 (GRCm39)	G256S	probably benign	Het
Pigk	T	C	3: 152,445,841 (GRCm39)	S151P	probably damaging	Het
Plcd4	A	C	1: 74,603,572 (GRCm39)	T658P	possibly damaging	Het
Pld4	A	T	12: 112,730,951 (GRCm39)	S178C	probably benign	Het
Polr1a	G	A	6: 71,886,213 (GRCm39)	E23K	possibly damaging	Het
Pomt1	T	C	2: 32,131,691 (GRCm39)	S127P	probably damaging	Het
Pon2	A	G	6: 5,269,029 (GRCm39)	V215A	possibly damaging	Het
Ppp3cb	A	T	14: 20,559,508 (GRCm39)	M416K	probably damaging	Het
Prdm1	A	T	10: 44,318,048 (GRCm39)	N273K	possibly damaging	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Prkn	G	T	17: 11,059,359 (GRCm39)		probably benign	Het
Ptch1	G	A	13: 63,670,866 (GRCm39)	T888M	probably damaging	Het
Pusl1	T	G	4: 155,975,899 (GRCm39)		probably benign	Het
Rapgef6	A	T	11: 54,513,143 (GRCm39)	E122D	probably damaging	Het
Rif1	C	T	2: 52,000,530 (GRCm39)	T1328I	probably damaging	Het
Rngtt	T	G	4: 33,500,292 (GRCm39)		probably null	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd1	A	G	8: 84,725,618 (GRCm39)		probably benign	Het
Scamp5	A	T	9: 57,358,735 (GRCm39)	F14I	probably damaging	Het
Shank3	C	T	15: 89,388,547 (GRCm39)	R380C	probably damaging	Het
Shisal2a	T	C	4: 108,234,658 (GRCm39)	T70A	probably benign	Het
Slc1a4	C	A	11: 20,282,166 (GRCm39)	A103S	probably damaging	Het
Slc39a14	A	G	14: 70,547,371 (GRCm39)	V325A	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Spata6l	G	A	19: 28,874,903 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,013,213 (GRCm39)	S375T	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Synpo	C	T	18: 60,762,936 (GRCm39)		probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tacc1	A	G	8: 25,672,622 (GRCm39)	M111T	possibly damaging	Het
Tec	T	C	5: 72,913,694 (GRCm39)	D613G	probably benign	Het
Tecpr2	C	T	12: 110,897,921 (GRCm39)	T391I	possibly damaging	Het
Thop1	G	A	10: 80,909,125 (GRCm39)	G52D	probably damaging	Het
Tmco5	T	A	2: 116,722,689 (GRCm39)	V270D	possibly damaging	Het
Ttn	C	T	2: 76,556,973 (GRCm39)	E28265K	possibly damaging	Het
Tuft1	T	C	3: 94,542,750 (GRCm39)	D72G	probably damaging	Het
Tyrp1	C	T	4: 80,769,144 (GRCm39)		probably benign	Het
Usp9y	T	C	Y: 1,308,041 (GRCm39)	D2265G	probably damaging	Het
Vmn2r104	G	A	17: 20,250,288 (GRCm39)	A661V	probably benign	Het
Vwa5a	A	T	9: 38,649,268 (GRCm39)	N672I	probably benign	Het
Wdr95	A	T	5: 149,535,157 (GRCm39)	K772*	probably null	Het
Ybx1	T	C	4: 119,140,010 (GRCm39)	T106A	probably benign	Het
Ypel3	T	C	7: 126,376,961 (GRCm39)	S14P	probably benign	Het
Zfp518a	T	A	19: 40,903,972 (GRCm39)	S1300R	probably benign	Het
Zscan5b	A	T	7: 6,242,189 (GRCm39)	*469Y	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
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'- AGAAGCCAGATCAGGGATCC -3'
(R):5'- CCCGAGACTTAACACTGACTTTC -3'

Sequencing Primer
(F):5'- GTCGGGAATCAGAGCTCAGTTG -3'
(R):5'- AAGTTTCACAGTGGGGAC -3'

Posted On

2016-04-15