Mutagenetix > Incidental Mutation

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

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

Accession Numbers

Essential gene?

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

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83597830 bp (GRCm39)

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]

AlphaFold

Q8BI06

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
Acan	T	A	7: 78,734,318 (GRCm39)	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,347,754 (GRCm39)	L149Q	probably damaging	Het
Bltp1	T	A	3: 37,027,409 (GRCm39)	Y2265*	probably null	Het
Cd40lg	A	G	X: 56,265,148 (GRCm39)	N132D	probably benign	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ces5a	A	T	8: 94,246,206 (GRCm39)	S328T	probably benign	Het
Cfap70	A	G	14: 20,470,755 (GRCm39)	C497R	probably benign	Het
Cndp2	T	C	18: 84,686,732 (GRCm39)	K430R	probably benign	Het
Cplane1	C	A	15: 8,251,395 (GRCm39)	T1889K	probably damaging	Het
Crlf3	T	C	11: 79,950,972 (GRCm39)	D126G	probably benign	Het
Cxcr1	A	T	1: 74,231,434 (GRCm39)	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,150,329 (GRCm39)		noncoding transcript	Het
Erbb2	C	T	11: 98,324,835 (GRCm39)	H810Y	probably benign	Het
Fmn1	C	A	2: 113,274,713 (GRCm39)		probably benign	Het
Fpr3	A	G	17: 18,191,325 (GRCm39)	T199A	possibly damaging	Het
Gcsh	A	G	8: 117,710,688 (GRCm39)		probably benign	Het
Gm10073	T	A	8: 107,299,901 (GRCm39)	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561 (GRCm39)	Q456K	probably damaging	Het
Hgs	C	A	11: 120,369,174 (GRCm39)	P317T	probably damaging	Het
Inmt	C	A	6: 55,148,213 (GRCm39)	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,551,211 (GRCm39)	M460I	possibly damaging	Het
Map9	A	T	3: 82,286,272 (GRCm39)	N359I	probably damaging	Het
Mavs	T	C	2: 131,087,263 (GRCm39)	S254P	probably benign	Het
Mcts1	T	A	X: 37,700,636 (GRCm39)		probably benign	Het
Mecp2	C	A	X: 73,079,447 (GRCm39)	R344L	possibly damaging	Het
Or1e32	T	G	11: 73,705,612 (GRCm39)	T99P	probably damaging	Het
Or4z4	A	G	19: 12,077,000 (GRCm39)	M1T	probably null	Het
Or5b3	G	T	19: 13,388,114 (GRCm39)	M60I	probably damaging	Het
Or8g36	T	C	9: 39,422,342 (GRCm39)	I225V	possibly damaging	Het
Or8g54	T	G	9: 39,706,674 (GRCm39)	M1R	probably null	Het
Or9g4	T	C	2: 85,504,701 (GRCm39)	T265A	probably benign	Het
Rasgrp1	T	C	2: 117,119,144 (GRCm39)	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,584,898 (GRCm39)	S185T	possibly damaging	Het
Rd3	A	T	1: 191,717,283 (GRCm39)	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,386,864 (GRCm39)	D148V	probably damaging	Het
Rnf43	C	A	11: 87,555,542 (GRCm39)	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,250,172 (GRCm39)	V21A	probably benign	Het
Septin9	T	C	11: 117,243,469 (GRCm39)	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,110,482 (GRCm39)	H103R	probably benign	Het
Spata6l	A	T	19: 28,873,532 (GRCm39)		probably null	Het
Ssh2	A	G	11: 77,340,732 (GRCm39)	D628G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,051 (GRCm39)		probably null	Het
Tmem119	A	G	5: 113,933,546 (GRCm39)	F85S	probably damaging	Het
Tpp1	A	T	7: 105,396,936 (GRCm39)	I398N	probably benign	Het
Ttc3	T	C	16: 94,191,066 (GRCm39)	Y203H	probably benign	Het
Vars1	G	T	17: 35,232,849 (GRCm39)	V898L	probably benign	Het
Vmn1r85	A	C	7: 12,819,081 (GRCm39)	V21G	probably damaging	Het
Zfp521	T	C	18: 14,072,045 (GRCm39)	H65R	possibly 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
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
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

2013-12-09