Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Mipol1'

24626

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

6030439O22Rik, D12Ertd19e, 1700081O04Rik

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57277211-57504027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57503855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 341 (Q341R)

Ref Sequence

ENSEMBL: ENSMUSP00000119918 (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: Q341R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: Q341R

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: Q341R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: Q341R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145003
AA Change: Q341R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: Q341R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153137
AA Change: Q341R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: Q341R

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

Meta Mutation Damage Score

0.0640

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	Het

Other mutations in Mipol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Mipol1	APN	12	57,354,139 (GRCm39)	splice site	probably benign
IGL01139:Mipol1	APN	12	57,352,821 (GRCm39)	nonsense	probably null
IGL02679:Mipol1	APN	12	57,352,829 (GRCm39)	missense	possibly damaging	0.84
IGL03109:Mipol1	APN	12	57,411,010 (GRCm39)	missense	probably benign	0.20
R0001:Mipol1	UTSW	12	57,507,625 (GRCm39)	splice site	probably benign
R0220:Mipol1	UTSW	12	57,503,936 (GRCm39)	missense	probably damaging	1.00
R0271:Mipol1	UTSW	12	57,507,740 (GRCm39)	unclassified	probably benign
R0496:Mipol1	UTSW	12	57,503,963 (GRCm39)	missense	probably damaging	0.99
R0538:Mipol1	UTSW	12	57,461,197 (GRCm39)	critical splice donor site	probably null
R1082:Mipol1	UTSW	12	57,372,402 (GRCm39)	missense	probably damaging	0.98
R1552:Mipol1	UTSW	12	57,352,874 (GRCm39)	missense	possibly damaging	0.86
R1558:Mipol1	UTSW	12	57,379,127 (GRCm39)	missense	probably damaging	1.00
R1928:Mipol1	UTSW	12	57,379,205 (GRCm39)	missense	probably damaging	1.00
R2104:Mipol1	UTSW	12	57,352,842 (GRCm39)	splice site	probably null
R2495:Mipol1	UTSW	12	57,507,776 (GRCm39)	splice site	probably benign
R3723:Mipol1	UTSW	12	57,503,878 (GRCm39)	missense	probably damaging	1.00
R4431:Mipol1	UTSW	12	57,350,310 (GRCm39)	missense	possibly damaging	0.58
R4447:Mipol1	UTSW	12	57,399,534 (GRCm39)	intron	probably benign
R4654:Mipol1	UTSW	12	57,352,918 (GRCm39)	missense	probably benign	0.22
R4847:Mipol1	UTSW	12	57,350,282 (GRCm39)	missense	probably damaging	0.99
R4851:Mipol1	UTSW	12	57,379,087 (GRCm39)	missense	probably damaging	1.00
R5113:Mipol1	UTSW	12	57,543,285 (GRCm39)	missense	probably benign	0.36
R5668:Mipol1	UTSW	12	57,372,346 (GRCm39)	missense	possibly damaging	0.48
R6535:Mipol1	UTSW	12	57,352,886 (GRCm39)	missense	possibly damaging	0.95
R7172:Mipol1	UTSW	12	57,372,321 (GRCm39)	missense	possibly damaging	0.95
R7191:Mipol1	UTSW	12	57,503,852 (GRCm39)	missense	probably benign	0.01
R7560:Mipol1	UTSW	12	57,352,859 (GRCm39)	missense	possibly damaging	0.94
R8508:Mipol1	UTSW	12	57,352,874 (GRCm39)	missense	possibly damaging	0.86
R8752:Mipol1	UTSW	12	57,372,367 (GRCm39)	missense	probably damaging	1.00
R8772:Mipol1	UTSW	12	57,372,418 (GRCm39)	missense	probably benign	0.23
R8861:Mipol1	UTSW	12	57,352,802 (GRCm39)	missense	probably benign	0.00
R8928:Mipol1	UTSW	12	57,507,651 (GRCm39)	missense	probably benign	0.00
R9011:Mipol1	UTSW	12	57,503,865 (GRCm39)	missense	probably benign	0.03
R9250:Mipol1	UTSW	12	57,461,169 (GRCm39)	missense	probably damaging	1.00
R9383:Mipol1	UTSW	12	57,352,820 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTGGCCTAGTAGCAGAGTTACAG -3'
(R):5'- AGGATTTAAGCACCGCAGAATCCAC -3'

Sequencing Primer
(F):5'- CCTAGTAGCAGAGTTACAGAACAATG -3'
(R):5'- GAATCCACGAGCTGATCCG -3'

Posted On

2013-04-16