Mutagenetix > Incidental Mutations

Incidental Mutation 'R0284:Mipol1'

24626

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

1700081O04Rik, 6030439O22Rik, D12Ertd19e

MMRRC Submission

038505-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57230427-57497199 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57457069 bp (GRCm38)

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
1110017D15Rik	T	G	4: 41,507,538	E150A	probably damaging	Het
Akap2	T	C	4: 57,855,207	F220L	probably damaging	Het
Alkbh6	A	G	7: 30,313,988	T161A	probably benign	Het
Alox12e	A	G	11: 70,320,899		probably benign	Het
Ap1g2	A	G	14: 55,101,692		probably benign	Het
Arid2	A	T	15: 96,378,967		probably benign	Het
Bmp2k	A	T	5: 97,068,455	H604L	unknown	Het
Cacna1a	A	T	8: 84,612,285	M1705L	probably damaging	Het
Cacna1d	A	T	14: 30,072,105	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,549,738	R107G	possibly damaging	Het
Cklf	T	C	8: 104,261,575		probably benign	Het
Crabp1	A	G	9: 54,764,926	K9E	probably benign	Het
Cspg4	A	G	9: 56,886,139	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,578,204		probably benign	Het
Dsg1a	T	A	18: 20,331,627	V393E	probably damaging	Het
Ednrb	C	T	14: 103,820,013	G371D	probably damaging	Het
Efcab5	T	C	11: 77,103,527		probably benign	Het
Exoc2	A	T	13: 30,877,625		probably benign	Het
Fbn2	G	A	18: 58,050,290		probably benign	Het
Foxo6	T	C	4: 120,269,002	S199G	probably benign	Het
Fpr1	T	A	17: 17,877,356	I124F	probably damaging	Het
Gk5	A	T	9: 96,181,770		probably null	Het
Gys1	A	T	7: 45,436,719		probably benign	Het
Igfbp1	T	C	11: 7,198,103	S49P	probably damaging	Het
Incenp	A	T	19: 9,893,993	S91T	unknown	Het
Itpkc	G	A	7: 27,214,543	R498*	probably null	Het
Kat6a	A	G	8: 22,939,803	T1725A	unknown	Het
Kiz	T	A	2: 146,863,810	C97S	probably benign	Het
Kri1	A	G	9: 21,276,552		probably benign	Het
Lipn	A	G	19: 34,080,706	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,712,141	T881A	probably damaging	Het
Man1a2	T	C	3: 100,684,786	H26R	probably damaging	Het
Map3k5	T	A	10: 20,000,613	F173I	probably damaging	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mllt6	G	T	11: 97,678,605	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nipsnap3a	C	T	4: 52,997,178	T150I	probably benign	Het
Nsl1	A	G	1: 191,065,230	E97G	probably damaging	Het
Olfr1278	T	C	2: 111,292,586	V106A	probably benign	Het
Olfr251	G	A	9: 38,378,584	M234I	probably benign	Het
Olfr736	G	A	14: 50,392,995	V80M	probably damaging	Het
Olfr830	A	T	9: 18,875,552	Y72F	probably benign	Het
Pdcd6ip	A	G	9: 113,662,504	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595		probably benign	Het
Prdm1	T	C	10: 44,456,626	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,150,647	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,316,393		probably benign	Het
Rag2	T	C	2: 101,630,119	V258A	probably damaging	Het
S100a5	A	G	3: 90,611,574	I68V	probably benign	Het
Serpinb8	G	A	1: 107,602,918		probably null	Het
Slc24a4	T	C	12: 102,260,481	V492A	probably damaging	Het
Spag6l	T	A	16: 16,780,766	Q287L	probably damaging	Het
Synpo2	C	T	3: 123,079,734	W211*	probably null	Het
Tgtp1	A	G	11: 48,987,143	V245A	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Trerf1	A	G	17: 47,319,545		noncoding transcript	Het
Ttn	G	C	2: 76,846,704		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps13d	A	T	4: 145,144,802	M1900K	probably benign	Het
Vps41	A	T	13: 18,853,440	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,671,740	Y974C	probably damaging	Het
Zscan29	A	T	2: 121,166,733		probably benign	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
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

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