Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Mipol1'

442463

Institutional Source

Beutler Lab

Gene Symbol

Mipol1

Ensembl Gene

ENSMUSG00000047022

Gene Name

mirror-image polydactyly 1

Synonyms

6030439O22Rik, D12Ertd19e, 1700081O04Rik

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57277211-57504027 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57372346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 135 (R135H)

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: R135H

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: R135H

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: R135H

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: R135H

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: R135H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: R135H

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: R135H

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: R135H

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

Meta Mutation Damage Score

0.1159

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Angptl3	A	T	4: 98,920,321 (GRCm39)		probably null	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dhx38	T	C	8: 110,280,048 (GRCm39)	D914G	probably damaging	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpatch8	T	C	11: 102,391,693 (GRCm39)	K143R	unknown	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or2k2	T	A	4: 58,785,489 (GRCm39)	I78F	probably benign	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,442,194 (GRCm39)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly damaging	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
R0284:Mipol1	UTSW	12	57,503,855 (GRCm39)	missense	probably damaging	0.98
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
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'- TGTTTCCACAAGTCACTCATTG -3'
(R):5'- TGAGTTCAAAGGCAGCCCTG -3'

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

Posted On

2016-11-09