Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01520:Cemip'

90476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cemip

Ensembl Gene

ENSMUSG00000052353

Gene Name

cell migration inducing protein, hyaluronan binding

Synonyms

6330404C01Rik, 9930013L23Rik, 12H19.01.T7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

83932857-84086502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83948622 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1060 (T1060K)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064174
AA Change: T1060K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: T1060K

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: ENSMUST00000145171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150495

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,221,911	T1889K	probably damaging	Het
4430402I18Rik	A	T	19: 28,896,132		probably null	Het
4932438A13Rik	T	A	3: 36,973,260	Y2265*	probably null	Het
Acan	T	A	7: 79,084,570	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,297,753	L149Q	probably damaging	Het
Cd40lg	A	G	X: 57,219,788	N132D	probably benign	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ces5a	A	T	8: 93,519,578	S328T	probably benign	Het
Cfap70	A	G	14: 20,420,687	C497R	probably benign	Het
Cndp2	T	C	18: 84,668,607	K430R	probably benign	Het
Crlf3	T	C	11: 80,060,146	D126G	probably benign	Het
Cxcr1	A	T	1: 74,192,275	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,161,897		noncoding transcript	Het
Erbb2	C	T	11: 98,434,009	H810Y	probably benign	Het
Fam57a	T	C	11: 76,207,225		probably null	Het
Fmn1	C	A	2: 113,444,368		probably benign	Het
Fpr3	A	G	17: 17,971,063	T199A	possibly damaging	Het
Gcsh	A	G	8: 116,983,949		probably benign	Het
Gm10073	T	A	8: 106,573,269	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561	Q456K	probably damaging	Het
Hgs	C	A	11: 120,478,348	P317T	probably damaging	Het
Inmt	C	A	6: 55,171,228	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,501,143	M460I	possibly damaging	Het
Map9	A	T	3: 82,378,965	N359I	probably damaging	Het
Mavs	T	C	2: 131,245,343	S254P	probably benign	Het
Mcts1	T	A	X: 38,611,759		probably benign	Het
Mecp2	C	A	X: 74,035,841	R344L	possibly damaging	Het
Olfr1006	T	C	2: 85,674,357	T265A	probably benign	Het
Olfr1427	A	G	19: 12,099,636	M1T	probably null	Het
Olfr1469	G	T	19: 13,410,750	M60I	probably damaging	Het
Olfr392	T	G	11: 73,814,786	T99P	probably damaging	Het
Olfr957	T	C	9: 39,511,046	I225V	possibly damaging	Het
Olfr969	T	G	9: 39,795,378	M1R	probably null	Het
Rasgrp1	T	C	2: 117,288,663	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,985,675	S185T	possibly damaging	Het
Rd3	A	T	1: 191,985,322	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,250,356	D148V	probably damaging	Het
Rnf43	C	A	11: 87,664,716	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,102,108	V21A	probably benign	Het
Sept9	T	C	11: 117,352,643	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,219,656	H103R	probably benign	Het
Ssh2	A	G	11: 77,449,906	D628G	probably damaging	Het
Tmem119	A	G	5: 113,795,485	F85S	probably damaging	Het
Tpp1	A	T	7: 105,747,729	I398N	probably benign	Het
Ttc3	T	C	16: 94,390,207	Y203H	probably benign	Het
Vars	G	T	17: 35,013,873	V898L	probably benign	Het
Vmn1r85	A	C	7: 13,085,154	V21G	probably damaging	Het
Zfp521	T	C	18: 13,938,988	H65R	possibly damaging	Het

Other mutations in Cemip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Cemip	APN	7	83947280	missense	possibly damaging	0.63
IGL01646:Cemip	APN	7	83983232	missense	possibly damaging	0.81
IGL02057:Cemip	APN	7	83987453	missense	probably damaging	1.00
IGL02058:Cemip	APN	7	83997292	missense	probably damaging	0.99
IGL02120:Cemip	APN	7	83951563	missense	probably damaging	0.99
IGL02278:Cemip	APN	7	83937438	missense	probably damaging	1.00
IGL02331:Cemip	APN	7	83963984	critical splice donor site	probably null
IGL02366:Cemip	APN	7	83943641	missense	probably benign	0.08
IGL02434:Cemip	APN	7	83955284	missense	probably damaging	0.98
IGL02622:Cemip	APN	7	83964175	missense	probably damaging	1.00
IGL02958:Cemip	APN	7	83975055	missense	probably damaging	0.99
IGL02979:Cemip	APN	7	84003306	splice site	probably benign
IGL03280:Cemip	APN	7	83987330	splice site	probably benign
IGL03400:Cemip	APN	7	83958516	missense	probably damaging	0.96
IGL03134:Cemip	UTSW	7	83999237	missense	probably damaging	1.00
PIT4618001:Cemip	UTSW	7	83943939	missense	probably benign	0.07
R0149:Cemip	UTSW	7	83964010	missense	probably benign
R0212:Cemip	UTSW	7	83973190	missense	probably damaging	0.99
R0361:Cemip	UTSW	7	83964010	missense	probably benign
R0565:Cemip	UTSW	7	83964110	missense	probably damaging	0.99
R0727:Cemip	UTSW	7	83961578	missense	probably benign	0.00
R1342:Cemip	UTSW	7	83944075	nonsense	probably null
R1456:Cemip	UTSW	7	83998510	missense	possibly damaging	0.96
R1526:Cemip	UTSW	7	83951440	missense	probably damaging	1.00
R1676:Cemip	UTSW	7	83964038	missense	possibly damaging	0.77
R1718:Cemip	UTSW	7	83935658	missense	probably benign	0.00
R2234:Cemip	UTSW	7	83998562	missense	probably benign	0.02
R2513:Cemip	UTSW	7	83942025	missense	probably benign	0.11
R3788:Cemip	UTSW	7	83943898	missense	probably damaging	1.00
R3964:Cemip	UTSW	7	83951509	missense	probably benign	0.43
R3966:Cemip	UTSW	7	83951509	missense	probably benign	0.43
R4436:Cemip	UTSW	7	83987429	missense	probably null	0.43
R4584:Cemip	UTSW	7	83958539	missense	probably damaging	1.00
R4601:Cemip	UTSW	7	83951618	missense	probably damaging	0.98
R4717:Cemip	UTSW	7	83947280	missense	probably damaging	0.97
R4767:Cemip	UTSW	7	83973306	missense	probably damaging	1.00
R4822:Cemip	UTSW	7	83973241	missense	probably benign	0.27
R4849:Cemip	UTSW	7	83935737	missense	possibly damaging	0.52
R4910:Cemip	UTSW	7	83997411	missense	probably damaging	1.00
R4911:Cemip	UTSW	7	83983253	missense	probably damaging	1.00
R4922:Cemip	UTSW	7	83947100	intron	probably benign
R4924:Cemip	UTSW	7	83952938	missense	probably damaging	1.00
R5090:Cemip	UTSW	7	83942135	missense	probably damaging	1.00
R5310:Cemip	UTSW	7	83992033	missense	probably damaging	1.00
R5327:Cemip	UTSW	7	83955301	missense	probably damaging	0.99
R5378:Cemip	UTSW	7	83958525	missense	probably damaging	1.00
R5444:Cemip	UTSW	7	83982291	missense	probably damaging	0.98
R5644:Cemip	UTSW	7	83989184	missense	probably benign	0.03
R5688:Cemip	UTSW	7	83961641	missense	probably damaging	1.00
R5714:Cemip	UTSW	7	83975179	missense	probably damaging	1.00
R6170:Cemip	UTSW	7	83947230	missense	possibly damaging	0.89
R6505:Cemip	UTSW	7	83951597	nonsense	probably null
R6713:Cemip	UTSW	7	83943637	missense	probably benign	0.03
R6767:Cemip	UTSW	7	83998624	missense	probably damaging	1.00
R6817:Cemip	UTSW	7	83987992	missense	probably damaging	1.00
R6896:Cemip	UTSW	7	83998576	missense	probably damaging	1.00
R6945:Cemip	UTSW	7	83998547	missense	probably damaging	1.00
R7236:Cemip	UTSW	7	83948804	splice site	probably null
R7410:Cemip	UTSW	7	83952834	missense	probably damaging	1.00
R7483:Cemip	UTSW	7	83998576	missense	probably damaging	0.99
R7734:Cemip	UTSW	7	83957664	nonsense	probably null
R7924:Cemip	UTSW	7	83943715	splice site	probably benign
R7962:Cemip	UTSW	7	84003408	start gained	probably benign
R7988:Cemip	UTSW	7	84003408	start gained	probably benign
R7993:Cemip	UTSW	7	83964175	missense	probably damaging	1.00
R8005:Cemip	UTSW	7	84003408	start gained	probably benign
R8077:Cemip	UTSW	7	84003408	start gained	probably benign
R8130:Cemip	UTSW	7	83947176	missense	probably benign
R8131:Cemip	UTSW	7	84003408	start gained	probably benign
R8172:Cemip	UTSW	7	83997225	missense	probably damaging	1.00
R8220:Cemip	UTSW	7	83947160	missense	probably damaging	1.00
R8345:Cemip	UTSW	7	83942165	critical splice acceptor site	probably null
R8391:Cemip	UTSW	7	83955309	missense	probably damaging	0.99
R8492:Cemip	UTSW	7	83973214	missense	probably damaging	0.99
R8496:Cemip	UTSW	7	83951426	missense	probably benign	0.00
RF008:Cemip	UTSW	7	83961635	missense	probably damaging	0.99
T0970:Cemip	UTSW	7	83983146	missense	probably damaging	0.99
X0067:Cemip	UTSW	7	83947208	missense	probably damaging	0.98
Z1177:Cemip	UTSW	7	83947296	missense	probably damaging	1.00

Posted On

2013-12-09