Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Mipol1'

215086

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

039946-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57332419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 221 (M221K)

Ref Sequence

ENSEMBL: ENSMUSP00000121617 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000123498
AA Change: M221K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: M221K

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: ENSMUST00000128945

Predicted Effect

probably damaging
Transcript: ENSMUST00000130447
AA Change: M221K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: M221K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000145003
AA Change: M221K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: M221K

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: ENSMUST00000150292

Predicted Effect

probably damaging
Transcript: ENSMUST00000153137
AA Change: M221K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: M221K

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

Meta Mutation Damage Score

0.2711

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,626,601	Q64P	unknown	Het
Adgrv1	A	T	13: 81,520,786	F1830L	probably benign	Het
Anks3	C	T	16: 4,946,054		probably null	Het
Aqp12	G	A	1: 93,006,610	D70N	probably damaging	Het
B4galnt4	C	T	7: 141,068,148	R526*	probably null	Het
Best2	A	G	8: 85,011,253	F171S	probably benign	Het
C2cd5	A	T	6: 143,013,230	V965D	probably damaging	Het
Cd33	T	C	7: 43,529,879	E282G	probably benign	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chd6	A	T	2: 160,968,000		probably benign	Het
Clec4d	A	T	6: 123,267,161		probably null	Het
Cntd1	C	T	11: 101,283,852	S128L	probably damaging	Het
Col19a1	T	C	1: 24,451,754		probably benign	Het
Ctrb1	C	A	8: 111,688,692	V117L	probably benign	Het
Dclk1	T	C	3: 55,247,521	V124A	possibly damaging	Het
Dcp2	T	C	18: 44,405,571		probably null	Het
Dctn1	C	A	6: 83,199,184		probably benign	Het
E330009J07Rik	A	G	6: 40,411,714	F238L	probably benign	Het
Ephb3	T	A	16: 21,222,295	M701K	possibly damaging	Het
Ero1lb	A	G	13: 12,601,759	E359G	probably damaging	Het
Exosc8	G	T	3: 54,728,845	A255E	probably damaging	Het
Fam155a	T	C	8: 9,770,217	T268A	probably benign	Het
Fam160a1	G	A	3: 85,688,531	P349L	probably damaging	Het
Fndc3c1	C	T	X: 106,433,522	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812	Q191*	probably null	Het
Gm1587	C	T	14: 77,798,848	R6Q	unknown	Het
Gm3409	A	G	5: 146,539,608	I190V	probably benign	Het
Gm4952	G	T	19: 12,623,609	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,306,469	M595I	possibly damaging	Het
Grik1	C	T	16: 88,051,353	V176M	probably damaging	Het
Grin2b	A	G	6: 136,044,046	C86R	probably damaging	Het
Gtse1	C	T	15: 85,862,063		probably benign	Het
Hectd2	T	C	19: 36,612,319	Y615H	probably damaging	Het
Hydin	T	C	8: 110,502,947	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,729,645	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,874,025	P39T	probably damaging	Het
Il23r	T	A	6: 67,423,735	D537V	possibly damaging	Het
Invs	A	G	4: 48,390,095	Y251C	probably damaging	Het
Isl1	G	T	13: 116,308,417	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,812,745	L399P	probably damaging	Het
Klhl1	A	G	14: 96,346,789	V335A	probably benign	Het
Klhl14	C	A	18: 21,651,786	A195S	probably damaging	Het
Lepr	A	G	4: 101,782,730		probably benign	Het
Map1b	A	C	13: 99,430,946	S1756A	unknown	Het
Med23	C	T	10: 24,909,812	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,921,462	Y299C	probably damaging	Het
Muc4	A	T	16: 32,750,532	S137C	probably damaging	Het
Mutyh	T	C	4: 116,816,658	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,409,313	T21A	possibly damaging	Het
Nell1	T	A	7: 50,701,195	V530E	possibly damaging	Het
Npc1	G	C	18: 12,213,378	P254A	possibly damaging	Het
Nup153	A	G	13: 46,701,026	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr16	T	C	1: 172,957,314	V173A	probably damaging	Het
Olfr747	A	G	14: 50,681,415	V73A	probably benign	Het
Olfr873	T	C	9: 20,301,058	V287A	probably benign	Het
Pabpc1l	T	A	2: 164,032,254	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,446,631	Y193H	probably damaging	Het
Pank1	T	C	19: 34,878,881	S66G	probably benign	Het
Pcdhb1	A	T	18: 37,266,180	K395*	probably null	Het
Pcna	A	G	2: 132,251,897		probably benign	Het
Pgr	T	A	9: 8,903,629	Y550*	probably null	Het
Phf11a	A	G	14: 59,281,867		probably benign	Het
Pkhd1	A	T	1: 20,081,300		probably benign	Het
Pofut2	T	A	10: 77,260,808	Y122*	probably null	Het
Pole	A	G	5: 110,327,778	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,750,033	L696P	probably damaging	Het
Rasal3	T	C	17: 32,397,353	D310G	probably damaging	Het
Rhoq	A	G	17: 86,995,058	K141E	probably benign	Het
Rilpl1	A	G	5: 124,514,750		probably benign	Het
Rnaseh1	T	C	12: 28,653,089	S91P	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Saa1	C	A	7: 46,742,432	G31W	probably null	Het
Scaf8	A	G	17: 3,168,077	T241A	unknown	Het
Scarb2	C	T	5: 92,444,266	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,910,447	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,828,970	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,722,093	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,470,016	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,073,812	S75P	probably benign	Het
Slc7a6	T	A	8: 106,193,488		probably benign	Het
Smco3	G	A	6: 136,831,847	Q10*	probably null	Het
Spem2	T	C	11: 69,817,464	Q225R	probably benign	Het
Ssb	G	T	2: 69,867,557		probably null	Het
Stx8	T	C	11: 68,109,280	I182T	probably damaging	Het
Synj2	T	A	17: 5,990,267	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,345,300	Y1055H	probably damaging	Het
Tex45	T	A	8: 3,486,947	I431K	possibly damaging	Het
Thbs3	G	T	3: 89,217,760	R52L	probably damaging	Het
Tmem101	C	T	11: 102,153,396	V222I	probably benign	Het
Tnks2	C	T	19: 36,845,668	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,880,723	W809R	probably damaging	Het
Trib2	T	A	12: 15,815,453	R16S	probably damaging	Het
Trim12a	T	C	7: 104,307,124	N70D	probably damaging	Het
Trim55	T	A	3: 19,661,882		probably null	Het
Tspyl5	T	A	15: 33,687,007	D264V	probably damaging	Het
Ttn	A	G	2: 76,725,044	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,663,988	F43S	possibly damaging	Het
Ube2cbp	A	G	9: 86,423,003	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,929	V270A	probably benign	Het
Vav3	T	A	3: 109,506,422	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,844,092	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,502,809	Q171K	probably benign	Het
Vmn2r103	T	C	17: 19,811,767	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,331,630	N555K	probably damaging	Het
Vps33a	G	A	5: 123,558,621	A323V	probably benign	Het
Wdr77	C	T	3: 105,967,302	P337S	probably benign	Het
Wnk1	A	T	6: 119,952,923	I93N	probably damaging	Het
Zbtb9	T	A	17: 26,974,638	I339N	probably damaging	Het
Zcchc6	A	G	13: 59,816,734	L209P	probably damaging	Het
Zfp202	T	A	9: 40,209,787	D241E	probably damaging	Het
Zfp235	T	A	7: 24,141,138	Y327*	probably null	Het
Zfp820	A	C	17: 21,819,335	D337E	probably benign	Het
Zfp944	T	C	17: 22,341,084	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733	V303A	unknown	Het
Zfyve26	C	T	12: 79,239,970	W2281*	probably null	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
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'- GTGGGTTTCAAGAACTAAGATGTGG -3'
(R):5'- GTGCATGAACTGTCACAAGG -3'

Sequencing Primer
(F):5'- CAGTCAATTTACAATTCACATGTGCC -3'
(R):5'- TGCATGAACTGTCACAAGGAAATGC -3'

Posted On

2014-07-14