Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Mipol1'

266060

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

040108-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 57306056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000123498

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022

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

Predicted Effect

probably null
Transcript: ENSMUST00000130447

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022

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 null
Transcript: ENSMUST00000145003

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022

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

probably null
Transcript: ENSMUST00000153137

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,304	V563I	probably benign	Het
Amer3	T	C	1: 34,588,678	V666A	probably benign	Het
Ankrd16	A	G	2: 11,779,900		probably benign	Het
Ankub1	G	T	3: 57,672,875	C120*	probably null	Het
Arhgap31	T	C	16: 38,625,579	I135V	probably benign	Het
Atp2c2	G	A	8: 119,749,845	G633D	probably benign	Het
Camta1	T	A	4: 151,453,294	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727	S1267P	probably benign	Het
Ccdc109b	T	A	3: 129,918,688	R179S	probably benign	Het
Cdh1	T	A	8: 106,653,759		probably benign	Het
Cdhr4	C	A	9: 107,996,261	D397E	probably damaging	Het
Cdk6	T	G	5: 3,344,387	S7R	probably benign	Het
Cilp2	C	A	8: 69,882,792	E519*	probably null	Het
Clybl	A	G	14: 122,311,306	Y40C	probably damaging	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329	*732W	probably null	Het
Ctns	A	T	11: 73,193,081	S38R	probably benign	Het
Cwh43	A	T	5: 73,421,530	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,338,861	D830E	probably benign	Het
Dmxl2	A	G	9: 54,415,564	V1512A	probably damaging	Het
Dnah9	A	T	11: 66,061,124	C1850S	probably damaging	Het
Dpp8	C	T	9: 65,074,567		probably null	Het
Enam	A	T	5: 88,501,787	Q385L	probably damaging	Het
Etv3	A	G	3: 87,536,062	T318A	possibly damaging	Het
Exd2	T	G	12: 80,496,801	I586S	probably benign	Het
Fat3	A	G	9: 15,998,517	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,332	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,735		probably null	Het
Foxc2	A	G	8: 121,118,080	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,171,520	E540G	probably damaging	Het
Hrg	T	C	16: 22,956,199	I193T	probably benign	Het
Ifih1	G	A	2: 62,610,545	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,619,520	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,975,296	V122A	probably damaging	Het
Inpp1	T	G	1: 52,799,418	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,661,254	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,501,114	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,607,358	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,823,428	A165D	probably benign	Het
Mdfi	G	C	17: 47,824,637	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843		probably null	Het
Meox2	A	G	12: 37,167,477	T226A	probably damaging	Het
Mms22l	T	G	4: 24,591,084	N1018K	probably benign	Het
Mn1	T	C	5: 111,454,751	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,794,177	S277R	probably damaging	Het
Muc6	C	A	7: 141,634,078	V2845L	probably benign	Het
Mup5	C	A	4: 61,833,725	G96C	probably damaging	Het
Neb	T	A	2: 52,256,814	M2813L	probably benign	Het
Neb	C	A	2: 52,271,558	R2074L	probably damaging	Het
Oasl2	A	T	5: 114,911,002	K168*	probably null	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897		probably null	Het
Rims4	C	T	2: 163,864,865		probably null	Het
Rtn4ip1	T	A	10: 43,932,406	W60R	probably benign	Het
Sccpdh	T	C	1: 179,670,597	S69P	probably benign	Het
Serpina3b	T	A	12: 104,138,810	I415N	probably benign	Het
Slc22a4	T	C	11: 53,983,610		probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slit1	T	C	19: 41,602,247	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,502,052	F138V	probably benign	Het
Taar7a	T	C	10: 23,993,061	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,862,131	E339G	probably benign	Het
Tep1	A	G	14: 50,850,580		probably benign	Het
Tgds	A	T	14: 118,121,737	Y146*	probably null	Het
Tgm3	G	A	2: 130,037,483	V332I	probably benign	Het
Tnnt2	A	G	1: 135,843,809		probably benign	Het
Top1	T	A	2: 160,704,819	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,317,982		probably benign	Het
Tpst1	A	G	5: 130,102,361	N224S	probably benign	Het
Traf4	A	G	11: 78,160,014	F439L	probably damaging	Het
Trim58	A	G	11: 58,643,138		probably benign	Het
Tspan31	T	C	10: 127,068,135	N205S	probably damaging	Het
Ube3a	T	A	7: 59,276,477	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,329,682		probably null	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wisp1	A	G	15: 66,919,327	E326G	probably benign	Het
Yipf7	T	A	5: 69,521,119	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,195,216	T75S	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
R1552:Mipol1	UTSW	12	57306088	missense	possibly damaging	0.86
R1558:Mipol1	UTSW	12	57332341	missense	probably damaging	1.00
R1928:Mipol1	UTSW	12	57332419	missense	probably damaging	1.00
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

Posted On

2015-02-05