Mutagenetix > Incidental Mutations

Incidental Mutation 'R7172:Mipol1'

558369

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 #

R7172 (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 57325535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 127 (E127K)

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

possibly damaging
Transcript: ENSMUST00000123498
AA Change: E127K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119636
Gene: ENSMUSG00000047022
AA Change: E127K

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: ENSMUST00000130447
AA Change: E127K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119918
Gene: ENSMUSG00000047022
AA Change: E127K

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: E127K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121617
Gene: ENSMUSG00000047022
AA Change: E127K

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: E127K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117005
Gene: ENSMUSG00000047022
AA Change: E127K

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

0.1285

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,638,318	Y33F	probably damaging	Het
Abca4	C	T	3: 122,103,540	Q623*	probably null	Het
Abcb1a	A	T	5: 8,702,399	I457F	probably benign	Het
Abcb9	G	A	5: 124,062,806	Q716*	probably null	Het
Abhd15	T	C	11: 77,515,296	V33A	probably benign	Het
Abl2	A	G	1: 156,622,587	D108G	probably damaging	Het
Adamts3	G	A	5: 89,883,001		probably benign	Het
Atmin	G	T	8: 116,956,542	V314L	probably damaging	Het
Axl	G	T	7: 25,786,974	Q102K	probably benign	Het
B020004J07Rik	A	G	4: 101,836,996	V230A	probably benign	Het
Cdhr5	A	G	7: 141,271,928	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,105,494	A126D	probably damaging	Het
Col25a1	A	T	3: 130,570,332	K537*	probably null	Het
Cxcl2	A	G	5: 90,904,020	T26A	probably benign	Het
Dcc	T	C	18: 71,378,684	T887A	probably benign	Het
Dhx36	T	C	3: 62,501,015	D134G	probably benign	Het
Dnah17	T	A	11: 118,041,131	K3672*	probably null	Het
Fadd	G	T	7: 144,582,171	H73Q	probably benign	Het
Fam35a	G	A	14: 34,237,568	T819I	probably damaging	Het
Fancm	A	G	12: 65,106,054	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,085,546	S789P	probably damaging	Het
Glis2	G	A	16: 4,613,475	V289I	probably benign	Het
Gm17728	A	C	17: 9,422,388	D110A	probably damaging	Het
Gm9602	T	A	14: 4,777,282	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,939,681	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,880,069		probably null	Het
Gps2	C	T	11: 69,916,436	T306I	probably benign	Het
Hmcn1	A	G	1: 150,753,699	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,204,296	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,573,494	A145S	probably benign	Het
Impdh2	G	T	9: 108,560,610	C26F	probably benign	Het
Kcnh6	T	C	11: 106,020,274	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,526,623	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,360,660	M1K	probably null	Het
Klk1b11	A	T	7: 43,999,247	D194V	possibly damaging	Het
Lama1	A	G	17: 67,804,545	I2264V		Het
Lmntd2	A	G	7: 141,213,641	S111P	unknown	Het
Megf8	T	C	7: 25,343,667	L1338P	probably damaging	Het
Mmp25	A	T	17: 23,644,788	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425	C15*	probably null	Het
Myh2	A	T	11: 67,188,701	T995S	probably benign	Het
Myo1d	C	T	11: 80,592,795	V863I	probably benign	Het
N4bp1	A	G	8: 86,860,424		probably null	Het
Nat10	G	T	2: 103,732,969	P562T	probably damaging	Het
Nedd9	C	G	13: 41,316,804	R291P	probably benign	Het
Nlrc3	G	T	16: 3,963,753	H613Q	probably benign	Het
Ntn1	A	T	11: 68,385,667	C152S	probably damaging	Het
Olfr332	T	A	11: 58,489,745	I337F	unknown	Het
Pam	A	T	1: 97,834,478	D793E	probably benign	Het
Patz1	T	G	11: 3,308,032	V631G	probably benign	Het
Pcdh15	G	A	10: 74,502,765	V1068M	probably damaging	Het
Prmt5	A	G	14: 54,514,886	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,432,636	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,733,586	S220R	probably benign	Het
Rdh7	T	G	10: 127,888,349	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,826,220	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,661,657	N3783I	probably damaging	Het
Slit1	A	G	19: 41,634,666	L644P	probably damaging	Het
Steap2	A	G	5: 5,682,896	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420		probably null	Het
Tbc1d9	A	G	8: 83,254,761	M686V	probably damaging	Het
Tdrp	G	A	8: 13,974,579	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,696,020	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,248,335	V757E	probably benign	Het
Trim10	A	G	17: 36,870,063	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,388,766	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,107,404	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,799,134	N68D	probably damaging	Het
Wdr83	A	G	8: 85,079,824	V115A	probably damaging	Het
Zdhhc17	A	G	10: 111,009,948	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,670,408	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,122,002	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,234,409	R133S	probably benign	Het
Zscan20	G	T	4: 128,585,676	C1007*	probably null	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
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'- TGTTTCCACAAGTCACTCATTGAG -3'
(R):5'- ACCTACACAGACTTTATAATGCTCC -3'

Sequencing Primer
(F):5'- CGAGACAGGGTTTCTTTGTATAGCC -3'
(R):5'- TCTCTCCTTGAGGGCTAA -3'

Posted On

2019-06-26