Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02958:Cemip'

365227

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 #

IGL02958

Quality Score

Status

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83624263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 524 (F524L)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000064174
AA Change: F524L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: F524L

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: ENSMUST00000147578

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	T	17: 45,829,098 (GRCm39)	V755L	probably benign	Het
Abhd15	T	C	11: 77,406,791 (GRCm39)	V256A	possibly damaging	Het
Agtr1b	A	T	3: 20,370,258 (GRCm39)	V116E	possibly damaging	Het
Ahi1	A	T	10: 20,839,698 (GRCm39)	D203V	probably damaging	Het
Aplp2	G	T	9: 31,075,972 (GRCm39)		probably benign	Het
Arid4a	T	C	12: 71,144,337 (GRCm39)	S1249P	probably benign	Het
Asz1	T	A	6: 18,073,813 (GRCm39)	K298M	possibly damaging	Het
C4bp	A	G	1: 130,564,532 (GRCm39)	I384T	probably damaging	Het
Cacna1e	C	A	1: 154,341,487 (GRCm39)	A1236S	probably damaging	Het
Cdh13	T	C	8: 120,039,460 (GRCm39)	I634T	possibly damaging	Het
Dnah7c	G	A	1: 46,696,271 (GRCm39)	R2051H	probably damaging	Het
Dnajc17	T	C	2: 119,016,243 (GRCm39)	K77E	probably benign	Het
Efhc2	C	T	X: 17,027,485 (GRCm39)		probably benign	Het
Ergic2	A	T	6: 148,083,441 (GRCm39)	*50K	probably null	Het
Fam83g	C	T	11: 61,598,548 (GRCm39)	P812S	probably damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Itih3	T	C	14: 30,635,139 (GRCm39)	T73A	probably benign	Het
Kcnj1	A	G	9: 32,307,851 (GRCm39)	S72G	probably damaging	Het
Kcnn4	T	C	7: 24,074,170 (GRCm39)	V78A	probably benign	Het
Lrp1b	T	A	2: 41,192,928 (GRCm39)	D1353V	probably damaging	Het
Lrrc2	T	A	9: 110,791,741 (GRCm39)		probably null	Het
Mplkipl1	G	T	19: 61,164,118 (GRCm39)	Q106K	possibly damaging	Het
Ndufs8	T	C	19: 3,961,232 (GRCm39)	E45G	probably benign	Het
Nell1	G	A	7: 49,870,085 (GRCm39)		probably null	Het
Nxt1	A	G	2: 148,517,692 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,127 (GRCm39)	Y256C	probably benign	Het
Or5al5	T	A	2: 85,961,351 (GRCm39)	I219F	probably benign	Het
Pdzd8	A	T	19: 59,288,804 (GRCm39)	C865*	probably null	Het
Pop1	G	T	15: 34,530,509 (GRCm39)	C969F	probably damaging	Het
Rc3h2	A	C	2: 37,304,712 (GRCm39)	I16S	probably damaging	Het
Shank1	T	C	7: 44,003,897 (GRCm39)	V1863A	possibly damaging	Het
Slc15a4	A	T	5: 127,681,729 (GRCm39)	L296Q	possibly damaging	Het
Spmip1	G	A	6: 29,471,625 (GRCm39)	G34R	probably damaging	Het
Ssr4	T	C	X: 72,830,856 (GRCm39)		probably benign	Het
Supt20	T	A	3: 54,621,144 (GRCm39)		probably benign	Het
Ttc8	A	T	12: 98,930,803 (GRCm39)	K282N	probably benign	Het
Usp40	A	T	1: 87,906,207 (GRCm39)	V676E	probably damaging	Het
Vmn1r43	T	C	6: 89,847,031 (GRCm39)	I152V	probably benign	Het
Vmn2r61	A	T	7: 41,949,361 (GRCm39)	I594F	probably benign	Het
Vps53	A	C	11: 76,008,537 (GRCm39)	I261S	probably damaging	Het
Wdr19	T	A	5: 65,370,150 (GRCm39)		probably null	Het
Zc3hav1	T	A	6: 38,309,919 (GRCm39)	D301V	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
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

2015-12-18