Mutagenetix > Incidental Mutations

Incidental Mutation 'R1552:Mipol1'

170030

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

039591-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57306088 bp (GRCm38)

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
1810046K07Rik	T	A	9: 51,291,570	S95C	probably damaging	Het
Abcc5	T	A	16: 20,398,867	I365F	probably damaging	Het
Abhd15	T	C	11: 77,515,407	L70P	probably damaging	Het
Adam18	A	C	8: 24,646,361	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,754,495		probably null	Het
Arcn1	C	T	9: 44,758,994	A112T	probably damaging	Het
Calhm1	C	T	19: 47,141,201	R294H	probably benign	Het
Ccdc121	A	G	1: 181,510,991	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,370,695	E81G	probably benign	Het
Cep170	T	C	1: 176,782,494		probably benign	Het
Cep350	C	T	1: 155,910,738	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 55,015,908	E205D	probably benign	Het
Chst5	T	C	8: 111,890,280	D236G	probably damaging	Het
Coro1a	T	C	7: 126,699,952	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,436,536	I474V	probably benign	Het
Cyth3	G	A	5: 143,697,750	V87I	probably benign	Het
Dclk3	C	A	9: 111,488,579	T761K	probably damaging	Het
Dvl2	T	A	11: 70,006,372	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,376,200		probably benign	Het
Exog	T	C	9: 119,445,110	S54P	unknown	Het
Fasn	A	G	11: 120,818,558	S519P	probably damaging	Het
Gas8	G	A	8: 123,520,646	A16T	probably benign	Het
Got2	A	G	8: 95,869,494	S333P	probably benign	Het
Hadhb	T	A	5: 30,176,933	L287Q	probably null	Het
Ift57	A	G	16: 49,759,353	T211A	probably benign	Het
Il1rap	A	G	16: 26,722,434	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,384,594	D11E	probably damaging	Het
Impact	T	C	18: 12,984,280	S137P	probably benign	Het
Jarid2	T	C	13: 44,911,199	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,235,458	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,464,029	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,969,343	Y48C	probably damaging	Het
Klra5	G	T	6: 129,909,885	T60K	probably damaging	Het
Kng2	A	T	16: 22,987,520	L643H	probably damaging	Het
Lamb3	A	G	1: 193,330,759		probably null	Het
Lingo2	A	G	4: 35,708,315	V555A	probably damaging	Het
Mbd5	T	C	2: 49,272,934	S251P	probably damaging	Het
Mc4r	T	C	18: 66,859,695	S116G	probably benign	Het
Myo15b	A	C	11: 115,866,635	S1104R	probably benign	Het
Nek1	T	A	8: 61,006,737	D26E	probably damaging	Het
Neu1	C	T	17: 34,932,113		probably benign	Het
Npffr2	T	C	5: 89,583,116	S302P	possibly damaging	Het
Olfr912	T	C	9: 38,581,379	M34T	probably benign	Het
Palmd	T	A	3: 116,948,040		probably benign	Het
Pcdh8	A	T	14: 79,770,607	V172E	probably benign	Het
Pnpla6	C	A	8: 3,522,403	Q291K	probably damaging	Het
Prkch	T	C	12: 73,702,546	F357L	probably benign	Het
Ptprj	A	T	2: 90,471,153	Y212N	probably damaging	Het
Reln	G	T	5: 21,960,378	H2061N	probably benign	Het
Rint1	T	A	5: 23,800,658	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468		probably null	Het
Slc30a4	T	A	2: 122,686,016	I374L	probably benign	Het
Slfn10-ps	T	C	11: 83,029,850		noncoding transcript	Het
Smcp	A	T	3: 92,584,403	C46S	unknown	Het
Smu1	A	C	4: 40,748,570	V240G	probably damaging	Het
Srsf5	A	G	12: 80,949,745		probably benign	Het
Stn1	T	C	19: 47,536,373		probably null	Het
Stx18	A	G	5: 38,104,991	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,630,167	Y222H	probably benign	Het
Tescl	G	T	7: 24,333,333	P189Q	probably benign	Het
Tlr1	A	G	5: 64,926,860	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,462,021	D566E	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,890,071	F1088S	possibly damaging	Het
Unc13b	A	T	4: 43,237,144	T3405S	probably damaging	Het
Upf1	G	A	8: 70,333,059	Q1046*	probably null	Het
Wwox	T	A	8: 114,445,350	Y61*	probably null	Het
Zfhx4	C	T	3: 5,403,110	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,960,751		probably benign	Het

Other mutations in Mipol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mipol1	APN	12	57307353	splice site	probably benign
IGL01139:Mipol1	APN	12	57306035	nonsense	probably null
IGL02679:Mipol1	APN	12	57306043	missense	possibly damaging	0.84
IGL03109:Mipol1	APN	12	57364224	missense	probably benign	0.20
R0001:Mipol1	UTSW	12	57460839	splice site	probably benign
R0220:Mipol1	UTSW	12	57457150	missense	probably damaging	1.00
R0271:Mipol1	UTSW	12	57460954	unclassified	probably benign
R0284:Mipol1	UTSW	12	57457069	missense	probably damaging	0.98
R0496:Mipol1	UTSW	12	57457177	missense	probably damaging	0.99
R0538:Mipol1	UTSW	12	57414411	critical splice donor site	probably null
R1082:Mipol1	UTSW	12	57325616	missense	probably damaging	0.98
R1558:Mipol1	UTSW	12	57332341	missense	probably damaging	1.00
R1928:Mipol1	UTSW	12	57332419	missense	probably damaging	1.00
R2104:Mipol1	UTSW	12	57306056	splice site	probably null
R2495:Mipol1	UTSW	12	57460990	splice site	probably benign
R3723:Mipol1	UTSW	12	57457092	missense	probably damaging	1.00
R4431:Mipol1	UTSW	12	57303524	missense	possibly damaging	0.58
R4447:Mipol1	UTSW	12	57352748	intron	probably benign
R4654:Mipol1	UTSW	12	57306132	missense	probably benign	0.22
R4847:Mipol1	UTSW	12	57303496	missense	probably damaging	0.99
R4851:Mipol1	UTSW	12	57332301	missense	probably damaging	1.00
R5113:Mipol1	UTSW	12	57496499	missense	probably benign	0.36
R5668:Mipol1	UTSW	12	57325560	missense	possibly damaging	0.48
R6535:Mipol1	UTSW	12	57306100	missense	possibly damaging	0.95
R7172:Mipol1	UTSW	12	57325535	missense	possibly damaging	0.95
R7191:Mipol1	UTSW	12	57457066	missense	probably benign	0.01
R7560:Mipol1	UTSW	12	57306073	missense	possibly damaging	0.94
R8508:Mipol1	UTSW	12	57306088	missense	possibly damaging	0.86
R8752:Mipol1	UTSW	12	57325581	missense	probably damaging	1.00
R8772:Mipol1	UTSW	12	57325632	missense	probably benign	0.23
R8861:Mipol1	UTSW	12	57306016	missense	probably benign	0.00
R8928:Mipol1	UTSW	12	57460865	missense	probably benign	0.00
R9011:Mipol1	UTSW	12	57457079	missense	probably benign	0.03
R9250:Mipol1	UTSW	12	57414383	missense	probably damaging	1.00
R9383:Mipol1	UTSW	12	57306034	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