Mutagenetix > Incidental Mutations

Incidental Mutation 'R4893:Mau2'

377402

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

MMRRC Submission

042498-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4893 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

70016123-70042734 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 70030640 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148601 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000050561

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858

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

Predicted Effect

probably null
Transcript: ENSMUST00000050561

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858

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

Predicted Effect

probably null
Transcript: ENSMUST00000168013

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858

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 null
Transcript: ENSMUST00000168013

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858

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

noncoding transcript
Transcript: ENSMUST00000212055

Predicted Effect

probably null
Transcript: ENSMUST00000212308

Predicted Effect

probably null
Transcript: ENSMUST00000212308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212401

Predicted Effect

probably null
Transcript: ENSMUST00000212451

Predicted Effect

probably null
Transcript: ENSMUST00000212451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212596

Predicted Effect

probably benign
Transcript: ENSMUST00000212845

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 116,971,165	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
Acss1	C	A	2: 150,629,866	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,200,478	D286A	probably benign	Het
Akap5	T	C	12: 76,329,969	V718A	probably damaging	Het
Ankk1	A	G	9: 49,415,683	V732A	probably benign	Het
Antxr2	T	A	5: 98,004,072	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,866,956	F1063V	probably benign	Het
Ascl5	A	T	1: 136,051,179	I126F	probably damaging	Het
Aspm	T	A	1: 139,489,839		probably null	Het
Atf6b	T	C	17: 34,648,612	S100P	probably damaging	Het
Baz2a	C	A	10: 128,123,415	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,847,419		probably benign	Het
Celsr3	C	G	9: 108,849,421	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,925,173	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,365,184	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,585,301		probably benign	Het
Cstf1	C	T	2: 172,380,524	R401C	probably damaging	Het
Cul3	A	G	1: 80,288,850	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,194,983	D124G	probably damaging	Het
Dnah12	A	G	14: 26,710,170	D381G	possibly damaging	Het
Dtna	T	C	18: 23,569,667	L85P	probably damaging	Het
Ephb2	A	G	4: 136,659,753	I722T	probably damaging	Het
Epn3	A	T	11: 94,491,996	F421I	probably damaging	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fam83f	T	A	15: 80,691,955	L269H	probably damaging	Het
Gata4	G	A	14: 63,201,596	A139V	probably benign	Het
Glce	T	C	9: 62,068,495	D241G	probably benign	Het
Gm17728	A	T	17: 9,422,231	I58F	probably benign	Het
Inhba	A	T	13: 16,026,549	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,427,821	R394L	probably benign	Het
Klhl14	T	C	18: 21,557,935	Y486C	probably damaging	Het
Krt1	A	G	15: 101,850,120	I203T	probably damaging	Het
Lims2	T	C	18: 31,941,811		probably null	Het
Lrrc31	T	G	3: 30,679,297	I423L	probably benign	Het
Map7d1	C	T	4: 126,233,222	D732N	unknown	Het
Mbtps1	G	A	8: 119,518,193	R840W	probably damaging	Het
Morn3	T	C	5: 123,037,682	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,777,865	K63E	probably damaging	Het
Muc20	T	C	16: 32,794,672	T112A	possibly damaging	Het
Myo6	T	A	9: 80,228,877	L94Q	probably damaging	Het
Nos1	C	A	5: 117,952,877	T1423K	possibly damaging	Het
Olfr166	A	G	16: 19,486,903	T22A	probably benign	Het
Olfr31	T	C	14: 14,328,852	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,343	T1114A	probably benign	Het
Pgm1	T	C	5: 64,105,940	V310A	probably benign	Het
Pi4ka	T	C	16: 17,377,036	E166G	probably benign	Het
Pign	A	T	1: 105,646,711	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,282,000	V149L	probably benign	Het
Pkd1l3	A	T	8: 109,638,394	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,153,771	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,771,421	Q355K	probably benign	Het
Pnpla7	T	A	2: 25,053,676	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,355,344	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,599,425	S544T	probably damaging	Het
Pusl1	G	A	4: 155,889,541	T252I	probably benign	Het
Rnf44	A	G	13: 54,681,932		probably null	Het
Slc24a2	A	T	4: 87,226,908	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,455,216		probably null	Het
Sox8	T	C	17: 25,568,989	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,846		probably null	Het
Taar6	T	C	10: 23,985,400	I83V	probably benign	Het
Tes	T	A	6: 17,104,596	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,406,255	L435H	probably damaging	Het
Zfhx3	G	T	8: 108,957,007	D3693Y	unknown	Het
Zfp931	G	A	2: 178,068,203	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,542	V95G	unknown	Het
Zw10	A	G	9: 49,074,025	E587G	possibly 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
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
R6959:Mau2	UTSW	8	70033228	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CAATGAGACACTGCCCTAGC -3'
(R):5'- AGCCATCACTGCAATAATTGTGC -3'

Sequencing Primer
(F):5'- GAGACACTGCCCTAGCCTTCC -3'
(R):5'- TGTGCTGATATCAGAGATGTAGACAC -3'

Posted On

2016-03-17