Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Mipol1'

685650

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57457079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 344 (E344D)

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: E344D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: E344D

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: E344D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: E344D

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: E344D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: E344D

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: ENSMUST00000153137
AA Change: E344D

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

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: E344D

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,304	I176F	possibly damaging	Het
Actr10	A	G	12: 70,952,960	T177A	probably benign	Het
Adgrb2	G	A	4: 130,022,318	D1468N	probably damaging	Het
AF067061	A	G	13: 120,264,210	T137A	probably damaging	Het
Aldh16a1	A	G	7: 45,145,527	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,526,618	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,207,440	S97G	probably benign	Het
Cacna1g	C	T	11: 94,415,837	G1905D	probably benign	Het
Ccne1	A	T	7: 38,106,660	M13K	probably benign	Het
Chil3	A	T	3: 106,149,715	Y304*	probably null	Het
Chst15	A	G	7: 132,270,517	F12L	probably benign	Het
Cldn23	T	A	8: 35,825,672	I221F	probably damaging	Het
Col16a1	T	C	4: 130,052,859	F92L	unknown	Het
Col6a3	A	T	1: 90,782,335		probably benign	Het
Cyp2w1	T	A	5: 139,354,559	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,864,173	Y512C	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Eif3l	T	G	15: 79,089,525	M380R	possibly damaging	Het
Fam71a	A	C	1: 191,163,061	S462A	probably benign	Het
Fer1l5	A	T	1: 36,402,520	K605N	probably damaging	Het
Fgfbp1	T	G	5: 43,979,285	N222H	probably benign	Het
Flcn	A	G	11: 59,799,407	L273P	possibly damaging	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gabpa	A	G	16: 84,841,321		probably benign	Het
Gfi1	A	G	5: 107,725,559		probably null	Het
Ift57	A	G	16: 49,759,414	Q316R	probably benign	Het
Itga11	T	C	9: 62,755,627	F542L	probably benign	Het
Kif28	G	C	1: 179,702,419	L726V	possibly damaging	Het
Krt90	A	G	15: 101,562,800	I9T	probably benign	Het
Lefty1	A	T	1: 180,937,676	M270L	probably benign	Het
Mon2	A	T	10: 123,026,308	M737K	possibly damaging	Het
Mrpl14	A	G	17: 45,698,404	N143S	probably benign	Het
Nelfcd	T	A	2: 174,426,924	H589Q	probably benign	Het
Npepps	T	C	11: 97,240,931	M366V	probably damaging	Het
Olfr1448	A	T	19: 12,920,115	S65T	probably damaging	Het
Platr25	T	A	13: 62,700,466	H194L	probably damaging	Het
Plekhg4	T	C	8: 105,375,652	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,605,529		probably benign	Het
Rarb	A	G	14: 16,435,140	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,965,103	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,137,928	P102S	probably damaging	Het
Scn10a	A	C	9: 119,630,094	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,521,826	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,995,789	I75V	probably benign	Het
Slc35f5	G	A	1: 125,562,313	A27T	probably benign	Het
Slc45a3	G	A	1: 131,977,976	V246I	probably benign	Het
Slc7a14	G	A	3: 31,224,196	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,936,440	T296A	probably benign	Het
Smyd2	G	A	1: 189,896,636	H157Y	probably damaging	Het
Spata32	T	A	11: 103,209,851	H30L	probably benign	Het
Srarp	T	C	4: 141,433,033	E163G	possibly damaging	Het
Tmed8	A	G	12: 87,174,164	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,856,549	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,247,190	R286C	unknown	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Ttn	T	C	2: 76,710,162	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931	C36*	probably null	Het
Ush2a	A	T	1: 188,906,479	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,115,686	N517S	probably damaging	Het
Zfp583	G	A	7: 6,316,628	P462S	probably 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
R8861:Mipol1	UTSW	12	57306016	missense	probably benign	0.00
R8928:Mipol1	UTSW	12	57460865	missense	probably benign	0.00
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'- TTTAGAAGAGGGGTTTCACATGAAG -3'
(R):5'- AAAACTATGTGGACTGTTGGGTTTC -3'

Sequencing Primer
(F):5'- GAAAGCCTGAAGGATCAGTT -3'
(R):5'- CGTTTCATGCCTTTAGGGT -3'

Posted On

2021-10-11