Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02434:Cemip'

293208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cemip

Ensembl Gene

ENSMUSG00000052353

Gene Name

cell migration inducing protein, hyaluronan binding

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83604492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 850 (M850K)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000064174
AA Change: M850K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: M850K

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 72,992,930 (GRCm39)	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,686 (GRCm39)	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,605,466 (GRCm39)	V339I	probably benign	Het
Btc	T	A	5: 91,510,186 (GRCm39)	I136F	probably damaging	Het
Cfap54	T	A	10: 92,902,616 (GRCm39)	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145 (GRCm39)	L214P	probably benign	Het
Garnl3	T	A	2: 32,944,217 (GRCm39)	N114I	probably damaging	Het
Gm10010	G	T	6: 128,177,433 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,701,963 (GRCm39)		probably benign	Het
Htr2b	A	G	1: 86,038,492 (GRCm39)	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,857 (GRCm39)	W339*	probably null	Het
Ifnb1	A	G	4: 88,440,755 (GRCm39)	V86A	probably damaging	Het
Itpr1	A	G	6: 108,466,883 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,929,075 (GRCm39)	S794G	probably benign	Het
Kdm5c	T	A	X: 151,016,558 (GRCm39)	M1K	probably null	Het
Lct	A	G	1: 128,231,527 (GRCm39)	V774A	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med14	A	T	X: 12,612,063 (GRCm39)	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,637,026 (GRCm39)		probably benign	Het
Or14j10	T	A	17: 37,935,467 (GRCm39)	N20Y	possibly damaging	Het
Or52e18	A	T	7: 104,609,279 (GRCm39)	M220K	probably benign	Het
Or52e18	A	T	7: 104,609,281 (GRCm39)	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,153,377 (GRCm39)	R178W	probably benign	Het
Prb1b	T	A	6: 132,289,339 (GRCm39)	R162W	unknown	Het
Prkcg	A	G	7: 3,367,406 (GRCm39)	I324V	probably benign	Het
Prr30	A	T	14: 101,435,804 (GRCm39)	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,082,262 (GRCm39)		probably null	Het
Rab11fip3	C	T	17: 26,287,809 (GRCm39)	A115T	possibly damaging	Het
Reps2	C	T	X: 161,309,253 (GRCm39)		probably null	Het
Rev3l	A	G	10: 39,698,587 (GRCm39)	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 21,124,732 (GRCm39)	R357G	probably damaging	Het
Scn5a	A	G	9: 119,362,859 (GRCm39)	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,670,868 (GRCm39)	T155I	probably benign	Het
Tfb2m	A	G	1: 179,359,700 (GRCm39)		probably benign	Het
Tfpi	A	G	2: 84,282,892 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,636,191 (GRCm39)	S593P	probably damaging	Het
Unc13c	T	C	9: 73,839,910 (GRCm39)	S314G	probably benign	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
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
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

Posted On

2015-04-16