Mutagenetix > Incidental Mutations

Incidental Mutation 'R8861:Mipol1'

675674

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57306016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

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 benign
Transcript: ENSMUST00000123498
AA Change: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: V47A

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: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: V47A

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: ENSMUST00000145003
AA Change: V47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: V47A

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: ENSMUST00000153137
AA Change: V47A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: V47A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,259,961	K1168*	probably null	Het
Acly	A	G	11: 100,484,598		probably null	Het
Agap2	T	G	10: 127,090,514	V896G	unknown	Het
Agtpbp1	T	C	13: 59,495,473	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,925,453	N135D	probably damaging	Het
Aox3	T	A	1: 58,150,301	I387K	probably benign	Het
Bysl	T	C	17: 47,606,959	E103G	probably benign	Het
Chmp5	T	A	4: 40,964,608	V208E	probably damaging	Het
Chst9	T	G	18: 15,452,573	H311P	possibly damaging	Het
Dcaf11	C	A	14: 55,564,498	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233	S266A	probably benign	Het
Dnah7b	T	A	1: 46,241,076	S2722T	possibly damaging	Het
En2	T	A	5: 28,166,735	I70N	probably damaging	Het
Fam72a	T	C	1: 131,538,918	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,460,009	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,810,824	D371V	probably damaging	Het
Fmn1	T	C	2: 113,364,804	L283P	unknown	Het
Gm13271	G	A	4: 88,755,129	V88I	probably benign	Het
Gnmt	G	A	17: 46,726,692	T120M	probably damaging	Het
H2-T22	A	T	17: 36,042,398	V10D	possibly damaging	Het
Ick	T	A	9: 78,164,562	N505K	probably benign	Het
Igf2bp3	A	C	6: 49,105,616	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,064,106	V347A	probably benign	Het
Klra17	A	T	6: 129,874,902	S2R	probably damaging	Het
Klri1	A	G	6: 129,698,201	S199P	probably benign	Het
Ltk	T	A	2: 119,759,613	Q44L	probably benign	Het
Matn4	A	T	2: 164,392,905	Y549N		Het
Mcoln3	T	A	3: 146,139,404	F452I	probably damaging	Het
Msh4	A	G	3: 153,901,468	L145S	probably benign	Het
Myh11	A	T	16: 14,246,782	I224N		Het
Nat8f1	A	G	6: 85,910,462	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,691,368	K438I	probably benign	Het
Nr1h3	T	G	2: 91,193,681		probably benign	Het
Nuggc	T	C	14: 65,610,035		probably null	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1271	T	C	2: 90,266,459		probably benign	Het
Olfr871	A	T	9: 20,213,081	H244L	probably damaging	Het
Pfn4	T	A	12: 4,775,456	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,259,165	C172G	probably damaging	Het
Ptprk	A	G	10: 28,570,190	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,285	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,339,344	T33A	probably damaging	Het
Rnf145	A	G	11: 44,555,157	T273A	probably damaging	Het
Rnf213	G	A	11: 119,442,236	R2758H		Het
Slc22a19	A	T	19: 7,682,959	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,718,825	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,861,404	T528A	possibly damaging	Het
Sp3	A	T	2: 72,971,286	Y172N	probably damaging	Het
Srpr	T	A	9: 35,215,749	M573K	probably benign	Het
Steap4	A	G	5: 7,975,672	I78V	probably benign	Het
Sulf2	A	G	2: 166,132,686	L26P	possibly damaging	Het
Taok2	T	C	7: 126,871,443	K738E	probably damaging	Het
Tcea3	G	A	4: 136,254,499	R56H	probably damaging	Het
Tcf20	A	G	15: 82,852,525	V1575A	probably damaging	Het
Togaram1	T	G	12: 64,980,632	S798R	possibly damaging	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
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
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'- CGGAGTCTCTTTTGGGATCACT -3'
(R):5'- ACAACAGAGAAAACTGGAACTGT -3'

Sequencing Primer
(F):5'- AGTCTCTTTTGGGATCACTGTGTG -3'
(R):5'- CTTGCTCTGAGAATTTCCAA -3'

Posted On

2021-07-15