Mutagenetix > Incidental Mutations

Incidental Mutation 'R8752:Mipol1'

663929

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57325581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 142 (R142Q)

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: R142Q

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

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: R142Q

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: ENSMUST00000130447
AA Change: R142Q

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

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: R142Q

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: R142Q

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

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: R142Q

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: R142Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: R142Q

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,813,570	K82R	probably damaging	Het
AA792892	A	T	5: 94,381,495	R41S	possibly damaging	Het
Acad8	A	T	9: 26,985,557	M202K	probably damaging	Het
Adam29	A	T	8: 55,872,293	C375*	probably null	Het
Adat2	A	T	10: 13,556,860	E35D	probably benign	Het
Afm	A	C	5: 90,552,565	E600D	probably benign	Het
Ahnak	T	A	19: 9,015,537	D4728E	probably damaging	Het
Ak7	AAGGAG	AAG	12: 105,747,217		probably benign	Het
Ankrd28	C	A	14: 31,755,742		probably benign	Het
Ankrd31	A	T	13: 96,780,371	H131L	probably damaging	Het
Ano5	T	C	7: 51,546,869	F183L	probably damaging	Het
Asah1	G	A	8: 41,360,277	S33L	possibly damaging	Het
Catsperg2	T	C	7: 29,705,319	D773G	possibly damaging	Het
Ccdc47	A	G	11: 106,204,992	Y293H	probably damaging	Het
Cd302	A	G	2: 60,272,185	F30S	probably damaging	Het
Ces1c	C	G	8: 93,120,336	A243P	probably damaging	Het
Deptor	A	T	15: 55,180,884	T149S	probably benign	Het
Dnah14	G	A	1: 181,628,016	R902H	probably benign	Het
Dnah5	A	G	15: 28,290,219	I1252V	probably benign	Het
Dnah7c	A	G	1: 46,672,541	I2643V	probably benign	Het
Dnajc4	C	T	19: 6,989,433	V177I	probably benign	Het
Efhc1	A	T	1: 20,989,468	N581Y	probably benign	Het
Espl1	A	G	15: 102,306,324	T767A	probably damaging	Het
Etv6	A	G	6: 134,266,428	E382G	probably benign	Het
Foxd4	A	T	19: 24,900,730	D35E	probably damaging	Het
Gata2	T	C	6: 88,200,531	V181A	possibly damaging	Het
Gm5114	A	T	7: 39,408,503	M564K	probably damaging	Het
Gpr45	A	T	1: 43,032,682	I162F	possibly damaging	Het
Hic1	A	G	11: 75,169,380	F47S	probably benign	Het
Hsf1	C	A	15: 76,500,144	S417*	probably null	Het
Id4	A	T	13: 48,261,589	H31L	possibly damaging	Het
Il12rb2	T	C	6: 67,351,281	S322G	probably damaging	Het
Lcn11	T	C	2: 25,778,126	Y99H	probably damaging	Het
Mpp2	A	G	11: 102,085,303	S10P	probably benign	Het
Muc15	A	T	2: 110,731,413	N65Y	possibly damaging	Het
Nav3	T	C	10: 109,760,304		probably benign	Het
Ndst3	C	T	3: 123,549,035	R709Q	probably damaging	Het
Nek11	G	T	9: 105,348,008	Q102K	probably benign	Het
Nhsl1	A	G	10: 18,531,365	N1416D	probably benign	Het
Olfr1153	T	C	2: 87,896,247	I16T	possibly damaging	Het
Olfr1216	T	C	2: 89,013,887	Y59C	probably damaging	Het
Olfr1341	A	C	4: 118,709,886	T160P	probably damaging	Het
Olfr497	T	C	7: 108,423,273	I234T	probably benign	Het
Olfr56	T	A	11: 49,134,678	V162E	possibly damaging	Het
Parp4	G	T	14: 56,648,616	E1717D	unknown	Het
Pla2g4d	A	T	2: 120,268,767		probably null	Het
Psmc2	A	G	5: 21,796,535	I107V	probably benign	Het
Rhod	G	T	19: 4,426,093	T210N	probably damaging	Het
Setx	A	T	2: 29,158,980	D2006V	probably damaging	Het
Sfpq	T	A	4: 127,026,176	M541K	possibly damaging	Het
Sorbs1	C	T	19: 40,361,428		probably null	Het
Sv2b	C	A	7: 75,206,094	M149I	possibly damaging	Het
Svil	T	A	18: 5,060,366		probably benign	Het
Vmn1r216	G	T	13: 23,099,710	V188F	probably damaging	Het
Vmn2r27	A	G	6: 124,224,059	F313S	probably benign	Het
Vmn2r44	A	G	7: 8,367,806	F747S	probably damaging	Het
Vmn2r95	T	C	17: 18,441,476	S495P	probably damaging	Het
Xpo5	C	T	17: 46,236,912		probably benign	Het
Zscan20	A	C	4: 128,585,687	C1004G	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
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'- TGTTTCCACAAGTCACTCATTGA -3'
(R):5'- CACAGTGGCCAGGAGAAGC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GAGACAAATTCAAGCAGATCTCTG -3'

Posted On

2021-03-08