Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Cemip'

280567

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 #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83600771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 950 (M950K)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000064174
AA Change: M950K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: M950K

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,087,654 (GRCm39)	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,202 (GRCm39)	T113A	possibly damaging	Het
Aox3	T	A	1: 58,166,809 (GRCm39)	N177K	probably benign	Het
Arhgap29	T	A	3: 121,797,906 (GRCm39)	V532E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Caskin1	G	T	17: 24,719,916 (GRCm39)	G401V	probably damaging	Het
Cfap107	C	T	4: 144,144,981 (GRCm39)	R195H	probably benign	Het
Chrd	T	C	16: 20,553,291 (GRCm39)	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,127,542 (GRCm39)	N212S	possibly damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Dlst	T	C	12: 85,165,342 (GRCm39)	S82P	probably benign	Het
Dmxl1	T	A	18: 50,027,245 (GRCm39)	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,534,876 (GRCm39)	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,391,736 (GRCm39)	M55K	probably benign	Het
Epdr1	A	T	13: 19,778,641 (GRCm39)	S50T	probably damaging	Het
Gm7808	T	A	9: 19,839,313 (GRCm39)		probably benign	Het
Huwe1	T	A	X: 150,690,386 (GRCm39)	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,780,085 (GRCm39)	T319M	probably damaging	Het
Lama1	G	A	17: 68,023,784 (GRCm39)	V60M	probably damaging	Het
Lingo3	A	T	10: 80,671,693 (GRCm39)	L79Q	probably damaging	Het
Magi2	T	A	5: 20,433,451 (GRCm39)		probably null	Het
Mob2	C	A	7: 141,564,035 (GRCm39)	V33L	possibly damaging	Het
Mus81	G	A	19: 5,535,661 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,044,169 (GRCm39)	G490D	probably damaging	Het
Or13n4	A	C	7: 106,422,905 (GRCm39)	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,286,816 (GRCm39)	V177A	probably damaging	Het
Pomt2	T	C	12: 87,158,326 (GRCm39)	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,773,069 (GRCm39)		probably benign	Het
Prp2rt	G	T	13: 97,235,285 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,503,333 (GRCm39)	E775G	probably damaging	Het
Rad54l	T	C	4: 115,956,181 (GRCm39)	I549V	probably benign	Het
Ranbp10	T	C	8: 106,532,214 (GRCm39)	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884 (GRCm39)	T223S	probably benign	Het
Stxbp6	G	T	12: 44,948,831 (GRCm39)		probably benign	Het
Syne2	A	G	12: 75,993,480 (GRCm39)	D2085G	probably damaging	Het
Szt2	C	T	4: 118,245,761 (GRCm39)	R1064Q	probably benign	Het
Taar3	A	G	10: 23,826,065 (GRCm39)	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,577,750 (GRCm39)	S345P	probably damaging	Het
Tgm4	T	A	9: 122,875,594 (GRCm39)	I149N	probably damaging	Het
Tubal3	T	A	13: 3,980,675 (GRCm39)	I129N	probably damaging	Het
Vegfc	T	C	8: 54,634,436 (GRCm39)	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vwf	C	A	6: 125,592,997 (GRCm39)	L786M	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
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
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