Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02679:Mipol1'

303299

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57306043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 56 (V56E)

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 benign
Transcript: ENSMUST00000123498
AA Change: V56E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: V56E

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: V56E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: V56E

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

possibly damaging
Transcript: ENSMUST00000145003
AA Change: V56E

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: V56E

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

possibly damaging
Transcript: ENSMUST00000153137
AA Change: V56E

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: V56E

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,182,979		probably benign	Het
Adam5	A	T	8: 24,806,526	Y302N	probably damaging	Het
Ankrd34c	A	T	9: 89,730,079	Y70N	probably damaging	Het
Asph	G	A	4: 9,601,349	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,124,302	C235R	probably damaging	Het
Brwd1	A	G	16: 96,002,823	L2049P	probably benign	Het
Capn2	T	A	1: 182,472,584	I614F	probably benign	Het
Ccdc126	T	A	6: 49,334,061	M1K	probably null	Het
Cdh9	T	C	15: 16,832,230	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,729,386	E121G	probably damaging	Het
Cfap46	A	G	7: 139,614,470	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,520,158	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,230,305	V731I	possibly damaging	Het
Fgf3	C	A	7: 144,840,750	N100K	probably damaging	Het
Gas7	G	A	11: 67,675,727		probably null	Het
Gfm1	C	T	3: 67,474,767	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,690,495	C61*	probably null	Het
Greb1	C	T	12: 16,708,723	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,177,260	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,945,398	E1577G	probably benign	Het
Lrrk1	C	T	7: 66,274,872	V235M	probably damaging	Het
Mycbp2	T	C	14: 103,205,185	I1927V	probably benign	Het
Ncaph	A	T	2: 127,124,864	N223K	possibly damaging	Het
Nipbl	A	G	15: 8,295,553	M2542T	probably benign	Het
Nolc1	C	A	19: 46,083,029		probably benign	Het
Olfr16	G	A	1: 172,957,176	C127Y	probably damaging	Het
Olfr555	A	G	7: 102,659,177	M119V	possibly damaging	Het
Pkhd1l1	T	C	15: 44,530,045		probably null	Het
Ppat	A	T	5: 76,919,469	C306S	probably benign	Het
Ptpn13	A	T	5: 103,569,454	M1821L	possibly damaging	Het
Rabl3	C	T	16: 37,541,925	S42L	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rfx3	G	A	19: 27,849,737	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,098,499	T149S	probably damaging	Het
Spata21	T	C	4: 141,111,265		probably benign	Het
Stx8	G	T	11: 67,969,772	W6C	probably damaging	Het
Tcn2	T	C	11: 3,927,504	E48G	possibly damaging	Het
Tctex1d2	T	C	16: 32,425,307	V107A	possibly damaging	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tldc1	A	T	8: 119,772,410	D114E	probably benign	Het
Tmem255b	G	A	8: 13,457,055	M240I	probably benign	Het
Ubr4	G	A	4: 139,459,134	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,314	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,443,854	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,399,736		probably benign	Het
Zfp804b	T	G	5: 6,771,392	D557A	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
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
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

Posted On

2015-04-16