Mutagenetix > Incidental Mutation

Incidental Mutation 'R3966:Cemip'

312348

Institutional Source

Beutler Lab

Gene Symbol

Cemip

Ensembl Gene

ENSMUSG00000052353

Gene Name

cell migration inducing protein, hyaluronan binding

Synonyms

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

MMRRC Submission

040935-MU

Accession Numbers

Essential gene?

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

Stock #

R3966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83582065-83735710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83600717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 968 (Y968F)

Ref Sequence

ENSEMBL: ENSMUSP00000063277 (fasta)

Gene Model

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

AlphaFold

Q8BI06

Predicted Effect

probably benign
Transcript: ENSMUST00000064174
AA Change: Y968F

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: Y968F

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

96% (47/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,762,183 (GRCm39)	I371T	probably damaging	Het
Brwd1	G	A	16: 95,845,730 (GRCm39)	T731I	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
C3	A	G	17: 57,525,664 (GRCm39)	V864A	probably damaging	Het
Cadps	A	T	14: 12,522,161 (GRCm38)		probably null	Het
Ces1g	C	A	8: 94,055,139 (GRCm39)	R186L	possibly damaging	Het
Chd2	A	G	7: 73,114,143 (GRCm39)		probably benign	Het
Clptm1l	T	C	13: 73,764,091 (GRCm39)	Y404H	probably damaging	Het
CN725425	T	A	15: 91,126,890 (GRCm39)		probably null	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
E330034G19Rik	G	T	14: 24,356,939 (GRCm39)	M158I	unknown	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Kdm4c	A	G	4: 74,216,820 (GRCm39)	D193G	probably damaging	Het
Mbd5	A	T	2: 49,162,082 (GRCm39)	I855L	possibly damaging	Het
Mcpt1	G	A	14: 56,256,503 (GRCm39)	V80M	probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Megf10	A	G	18: 57,313,646 (GRCm39)	D30G	probably damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Mycbp2	A	G	14: 103,376,161 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Ncor1	T	C	11: 62,235,583 (GRCm39)	T624A	probably damaging	Het
Nfat5	G	T	8: 108,093,921 (GRCm39)	A721S	possibly damaging	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Npm1	C	T	11: 33,110,350 (GRCm39)	G148D	probably benign	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Prkd1	C	T	12: 50,439,724 (GRCm39)	E368K	probably benign	Het
Ptgs2	T	A	1: 149,981,226 (GRCm39)	I503N	probably damaging	Het
Qrfpr	A	G	3: 36,235,149 (GRCm39)	S243P	possibly damaging	Het
Safb2	T	C	17: 56,882,356 (GRCm39)	S426G	probably null	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Spink10	T	C	18: 62,790,975 (GRCm39)	I87T	probably damaging	Het
Tet2	A	G	3: 133,193,418 (GRCm39)	S339P	possibly damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Tom1	A	G	8: 75,785,867 (GRCm39)	K360E	probably benign	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Vmn2r33	T	C	7: 7,557,168 (GRCm39)	M511V	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCCAACATAGAACTAACTG -3'
(R):5'- ATTGGAAACTTTGCCCTGGC -3'

Sequencing Primer
(F):5'- ACACGGAAGGCTCTCTGAGTC -3'
(R):5'- GAAACTTTGCCCTGGCCTGATG -3'

Posted On

2015-04-29