Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Mau2'

541652

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70016123-70042734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70033228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 110 (D110G)

Ref Sequence

ENSEMBL: ENSMUSP00000148532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050561] [ENSMUST00000168013] [ENSMUST00000212308] [ENSMUST00000212451] [ENSMUST00000212845]

AlphaFold

Q9D2X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000050561
AA Change: D110G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: D110G

Domain	Start	End	E-Value	Type
Pfam:Cohesin_load	29	575	5e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168013
AA Change: D110G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: D110G

Domain	Start	End	E-Value	Type
Pfam:Cohesin_load	29	576	8.7e-130	PFAM
Pfam:TPR_8	71	105	3.3e-4	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212308
AA Change: D110G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212451
AA Change: D110G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212845
AA Change: D110G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	Het

Other mutations in Mau2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Mau2	APN	8	70029245	splice site	probably benign
IGL02353:Mau2	APN	8	70019638	missense	probably damaging	0.99
IGL02360:Mau2	APN	8	70019638	missense	probably damaging	0.99
IGL02990:Mau2	APN	8	70022255	splice site	probably benign
PIT4382001:Mau2	UTSW	8	70030652	missense	possibly damaging	0.95
R0378:Mau2	UTSW	8	70030655	missense	probably damaging	0.99
R0556:Mau2	UTSW	8	70042432	missense	probably damaging	1.00
R0558:Mau2	UTSW	8	70042432	missense	probably damaging	1.00
R0731:Mau2	UTSW	8	70023612	critical splice donor site	probably null
R0987:Mau2	UTSW	8	70027698	missense	probably damaging	0.99
R1866:Mau2	UTSW	8	70031492	missense	probably damaging	1.00
R2857:Mau2	UTSW	8	70019824	missense	probably benign	0.08
R4852:Mau2	UTSW	8	70033177	critical splice donor site	probably null
R4893:Mau2	UTSW	8	70030640	critical splice donor site	probably null
R4970:Mau2	UTSW	8	70027703	missense	possibly damaging	0.94
R5004:Mau2	UTSW	8	70025887	missense	probably damaging	1.00
R5012:Mau2	UTSW	8	70031457	splice site	probably null
R5248:Mau2	UTSW	8	70028723	missense	probably benign	0.11
R6150:Mau2	UTSW	8	70019837	missense	probably benign	0.23
R6178:Mau2	UTSW	8	70042537	missense	probably damaging	0.96
R6343:Mau2	UTSW	8	70031523	missense	probably damaging	0.99
R6649:Mau2	UTSW	8	70031516	missense	possibly damaging	0.71
R6838:Mau2	UTSW	8	70039297	splice site	probably null
R7365:Mau2	UTSW	8	70029234	missense	possibly damaging	0.93
R7747:Mau2	UTSW	8	70026723	missense	possibly damaging	0.46
R8039:Mau2	UTSW	8	70019790	missense	probably damaging	0.96
R8222:Mau2	UTSW	8	70033177	critical splice donor site	probably null
R8350:Mau2	UTSW	8	70042592	missense	probably damaging	1.00
R8782:Mau2	UTSW	8	70033195	missense	possibly damaging	0.74
R9145:Mau2	UTSW	8	70027515	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTGAGCAAGCCATGTAC -3'
(R):5'- AGCCCATGGTAAAAGCTGG -3'

Sequencing Primer
(F):5'- CATGGGTCTCTGAGGGCTGAAC -3'
(R):5'- GGCATACTATGTACCCTAGCTG -3'

Posted On

2018-11-28