Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Mipol1'

170030

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

6030439O22Rik, D12Ertd19e, 1700081O04Rik

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57277211-57504027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57352874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000117005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123498] [ENSMUST00000130447] [ENSMUST00000145003] [ENSMUST00000153137]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000123498
AA Change: V71A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: V71A

Domain	Start	End	E-Value	Type
coiled coil region	70	127	N/A	INTRINSIC
Blast:HNHc	220	265	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000130447
AA Change: V71A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: V71A

Domain	Start	End	E-Value	Type
coiled coil region	70	127	N/A	INTRINSIC
Blast:HNHc	220	265	2e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136006

Predicted Effect

probably benign
Transcript: ENSMUST00000145003
AA Change: V71A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: V71A

Domain	Start	End	E-Value	Type
coiled coil region	70	127	N/A	INTRINSIC
Blast:HNHc	220	265	2e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150292

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153137
AA Change: V71A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: V71A

Domain	Start	End	E-Value	Type
coiled coil region	70	127	N/A	INTRINSIC
Blast:HNHc	220	265	2e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153755

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,217,617 (GRCm39)	I365F	probably damaging	Het
Abhd15	T	C	11: 77,406,233 (GRCm39)	L70P	probably damaging	Het
Adam18	A	C	8: 25,136,377 (GRCm39)	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,645,321 (GRCm39)		probably null	Het
Arcn1	C	T	9: 44,670,291 (GRCm39)	A112T	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Calhm1	C	T	19: 47,129,640 (GRCm39)	R294H	probably benign	Het
Ccdc121rt1	A	G	1: 181,338,556 (GRCm39)	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,615 (GRCm39)	E81G	probably benign	Het
Cep170	T	C	1: 176,610,060 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,786,484 (GRCm39)	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 54,923,192 (GRCm39)	E205D	probably benign	Het
Chst5	T	C	8: 112,616,912 (GRCm39)	D236G	probably damaging	Het
Coro1a	T	C	7: 126,299,124 (GRCm39)	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,373,346 (GRCm39)	I474V	probably benign	Het
Cyth3	G	A	5: 143,683,505 (GRCm39)	V87I	probably benign	Het
Dclk3	C	A	9: 111,317,647 (GRCm39)	T761K	probably damaging	Het
Dvl2	T	A	11: 69,897,198 (GRCm39)	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Exog	T	C	9: 119,274,176 (GRCm39)	S54P	unknown	Het
Fasn	A	G	11: 120,709,384 (GRCm39)	S519P	probably damaging	Het
Gas8	G	A	8: 124,247,385 (GRCm39)	A16T	probably benign	Het
Got2	A	G	8: 96,596,122 (GRCm39)	S333P	probably benign	Het
Hadhb	T	A	5: 30,381,931 (GRCm39)	L287Q	probably null	Het
Ift57	A	G	16: 49,579,716 (GRCm39)	T211A	probably benign	Het
Il1rap	A	G	16: 26,541,184 (GRCm39)	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,312,316 (GRCm39)	D11E	probably damaging	Het
Impact	T	C	18: 13,117,337 (GRCm39)	S137P	probably benign	Het
Jarid2	T	C	13: 45,064,675 (GRCm39)	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,223,890 (GRCm39)	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,375,325 (GRCm39)	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,618,767 (GRCm39)	Y48C	probably damaging	Het
Klra5	G	T	6: 129,886,848 (GRCm39)	T60K	probably damaging	Het
Kng2	A	T	16: 22,806,270 (GRCm39)	L643H	probably damaging	Het
Lamb3	A	G	1: 193,013,067 (GRCm39)		probably null	Het
Lingo2	A	G	4: 35,708,315 (GRCm39)	V555A	probably damaging	Het
Mbd5	T	C	2: 49,162,946 (GRCm39)	S251P	probably damaging	Het
Mc4r	T	C	18: 66,992,766 (GRCm39)	S116G	probably benign	Het
Myo15b	A	C	11: 115,757,461 (GRCm39)	S1104R	probably benign	Het
Nek1	T	A	8: 61,459,771 (GRCm39)	D26E	probably damaging	Het
Neu1	C	T	17: 35,151,089 (GRCm39)		probably benign	Het
Npffr2	T	C	5: 89,730,975 (GRCm39)	S302P	possibly damaging	Het
Or8b48	T	C	9: 38,492,675 (GRCm39)	M34T	probably benign	Het
Palmd	T	A	3: 116,741,689 (GRCm39)		probably benign	Het
Pcdh8	A	T	14: 80,008,047 (GRCm39)	V172E	probably benign	Het
Pnpla6	C	A	8: 3,572,403 (GRCm39)	Q291K	probably damaging	Het
Pou2af2	T	A	9: 51,202,870 (GRCm39)	S95C	probably damaging	Het
Prkch	T	C	12: 73,749,320 (GRCm39)	F357L	probably benign	Het
Ptprj	A	T	2: 90,301,497 (GRCm39)	Y212N	probably damaging	Het
Reln	G	T	5: 22,165,376 (GRCm39)	H2061N	probably benign	Het
Rint1	T	A	5: 24,005,656 (GRCm39)	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468 (GRCm39)		probably null	Het
Slc30a4	T	A	2: 122,527,936 (GRCm39)	I374L	probably benign	Het
Slfn10-ps	T	C	11: 82,920,676 (GRCm39)		noncoding transcript	Het
Smcp	A	T	3: 92,491,710 (GRCm39)	C46S	unknown	Het
Smu1	A	C	4: 40,748,570 (GRCm39)	V240G	probably damaging	Het
Srsf5	A	G	12: 80,996,519 (GRCm39)		probably benign	Het
Stn1	T	C	19: 47,524,812 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,262,335 (GRCm39)	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,607,130 (GRCm39)	Y222H	probably benign	Het
Tescl	G	T	7: 24,032,758 (GRCm39)	P189Q	probably benign	Het
Tlr1	A	G	5: 65,084,203 (GRCm39)	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,609,880 (GRCm39)	D566E	possibly damaging	Het
Unc13b	A	T	4: 43,237,144 (GRCm39)	T3405S	probably damaging	Het
Upf1	G	A	8: 70,785,709 (GRCm39)	Q1046*	probably null	Het
Wwox	T	A	8: 115,172,090 (GRCm39)	Y61*	probably null	Het
Zfhx4	C	T	3: 5,468,170 (GRCm39)	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,888,488 (GRCm39)		probably benign	Het

Other mutations in Mipol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mipol1	APN	12	57,354,139 (GRCm39)	splice site	probably benign
IGL01139:Mipol1	APN	12	57,352,821 (GRCm39)	nonsense	probably null
IGL02679:Mipol1	APN	12	57,352,829 (GRCm39)	missense	possibly damaging	0.84
IGL03109:Mipol1	APN	12	57,411,010 (GRCm39)	missense	probably benign	0.20
R0001:Mipol1	UTSW	12	57,507,625 (GRCm39)	splice site	probably benign
R0220:Mipol1	UTSW	12	57,503,936 (GRCm39)	missense	probably damaging	1.00
R0271:Mipol1	UTSW	12	57,507,740 (GRCm39)	unclassified	probably benign
R0284:Mipol1	UTSW	12	57,503,855 (GRCm39)	missense	probably damaging	0.98
R0496:Mipol1	UTSW	12	57,503,963 (GRCm39)	missense	probably damaging	0.99
R0538:Mipol1	UTSW	12	57,461,197 (GRCm39)	critical splice donor site	probably null
R1082:Mipol1	UTSW	12	57,372,402 (GRCm39)	missense	probably damaging	0.98
R1558:Mipol1	UTSW	12	57,379,127 (GRCm39)	missense	probably damaging	1.00
R1928:Mipol1	UTSW	12	57,379,205 (GRCm39)	missense	probably damaging	1.00
R2104:Mipol1	UTSW	12	57,352,842 (GRCm39)	splice site	probably null
R2495:Mipol1	UTSW	12	57,507,776 (GRCm39)	splice site	probably benign
R3723:Mipol1	UTSW	12	57,503,878 (GRCm39)	missense	probably damaging	1.00
R4431:Mipol1	UTSW	12	57,350,310 (GRCm39)	missense	possibly damaging	0.58
R4447:Mipol1	UTSW	12	57,399,534 (GRCm39)	intron	probably benign
R4654:Mipol1	UTSW	12	57,352,918 (GRCm39)	missense	probably benign	0.22
R4847:Mipol1	UTSW	12	57,350,282 (GRCm39)	missense	probably damaging	0.99
R4851:Mipol1	UTSW	12	57,379,087 (GRCm39)	missense	probably damaging	1.00
R5113:Mipol1	UTSW	12	57,543,285 (GRCm39)	missense	probably benign	0.36
R5668:Mipol1	UTSW	12	57,372,346 (GRCm39)	missense	possibly damaging	0.48
R6535:Mipol1	UTSW	12	57,352,886 (GRCm39)	missense	possibly damaging	0.95
R7172:Mipol1	UTSW	12	57,372,321 (GRCm39)	missense	possibly damaging	0.95
R7191:Mipol1	UTSW	12	57,503,852 (GRCm39)	missense	probably benign	0.01
R7560:Mipol1	UTSW	12	57,352,859 (GRCm39)	missense	possibly damaging	0.94
R8508:Mipol1	UTSW	12	57,352,874 (GRCm39)	missense	possibly damaging	0.86
R8752:Mipol1	UTSW	12	57,372,367 (GRCm39)	missense	probably damaging	1.00
R8772:Mipol1	UTSW	12	57,372,418 (GRCm39)	missense	probably benign	0.23
R8861:Mipol1	UTSW	12	57,352,802 (GRCm39)	missense	probably benign	0.00
R8928:Mipol1	UTSW	12	57,507,651 (GRCm39)	missense	probably benign	0.00
R9011:Mipol1	UTSW	12	57,503,865 (GRCm39)	missense	probably benign	0.03
R9250:Mipol1	UTSW	12	57,461,169 (GRCm39)	missense	probably damaging	1.00
R9383:Mipol1	UTSW	12	57,352,820 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAACCGGAGTCTCTTTTGGGATCAC -3'
(R):5'- CAGGGCATATAACACCGTCTGCATC -3'

Sequencing Primer
(F):5'- GATCACTGTGTGTTTTTTCCCATTG -3'
(R):5'- TGGCTGATAATGTAGCCCAC -3'

Posted On

2014-04-13