Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Mau2'

489192

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

A930019L04Rik, 9130404D08Rik

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70468773-70495384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70472487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 565 (H565Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148479 (fasta)

Gene Model

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

AlphaFold

Q9D2X5

Predicted Effect

probably benign
Transcript: ENSMUST00000050561
AA Change: H564Q

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: H564Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168013
AA Change: H565Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: H565Q

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 benign
Transcript: ENSMUST00000212308
AA Change: H565Q

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212401

Predicted Effect

probably benign
Transcript: ENSMUST00000212451
AA Change: H565Q

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000212845

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	Het

Other mutations in Mau2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Mau2	APN	8	70,481,895 (GRCm39)	splice site	probably benign
IGL02353:Mau2	APN	8	70,472,288 (GRCm39)	missense	probably damaging	0.99
IGL02360:Mau2	APN	8	70,472,288 (GRCm39)	missense	probably damaging	0.99
IGL02990:Mau2	APN	8	70,474,905 (GRCm39)	splice site	probably benign
PIT4382001:Mau2	UTSW	8	70,483,302 (GRCm39)	missense	possibly damaging	0.95
R0378:Mau2	UTSW	8	70,483,305 (GRCm39)	missense	probably damaging	0.99
R0556:Mau2	UTSW	8	70,495,082 (GRCm39)	missense	probably damaging	1.00
R0558:Mau2	UTSW	8	70,495,082 (GRCm39)	missense	probably damaging	1.00
R0731:Mau2	UTSW	8	70,476,262 (GRCm39)	critical splice donor site	probably null
R0987:Mau2	UTSW	8	70,480,348 (GRCm39)	missense	probably damaging	0.99
R1866:Mau2	UTSW	8	70,484,142 (GRCm39)	missense	probably damaging	1.00
R2857:Mau2	UTSW	8	70,472,474 (GRCm39)	missense	probably benign	0.08
R4852:Mau2	UTSW	8	70,485,827 (GRCm39)	critical splice donor site	probably null
R4893:Mau2	UTSW	8	70,483,290 (GRCm39)	critical splice donor site	probably null
R4970:Mau2	UTSW	8	70,480,353 (GRCm39)	missense	possibly damaging	0.94
R5004:Mau2	UTSW	8	70,478,537 (GRCm39)	missense	probably damaging	1.00
R5012:Mau2	UTSW	8	70,484,107 (GRCm39)	splice site	probably null
R5248:Mau2	UTSW	8	70,481,373 (GRCm39)	missense	probably benign	0.11
R6178:Mau2	UTSW	8	70,495,187 (GRCm39)	missense	probably damaging	0.96
R6343:Mau2	UTSW	8	70,484,173 (GRCm39)	missense	probably damaging	0.99
R6649:Mau2	UTSW	8	70,484,166 (GRCm39)	missense	possibly damaging	0.71
R6838:Mau2	UTSW	8	70,491,947 (GRCm39)	splice site	probably null
R6959:Mau2	UTSW	8	70,485,878 (GRCm39)	missense	probably damaging	1.00
R7365:Mau2	UTSW	8	70,481,884 (GRCm39)	missense	possibly damaging	0.93
R7747:Mau2	UTSW	8	70,479,373 (GRCm39)	missense	possibly damaging	0.46
R8039:Mau2	UTSW	8	70,472,440 (GRCm39)	missense	probably damaging	0.96
R8222:Mau2	UTSW	8	70,485,827 (GRCm39)	critical splice donor site	probably null
R8350:Mau2	UTSW	8	70,495,242 (GRCm39)	missense	probably damaging	1.00
R8782:Mau2	UTSW	8	70,485,845 (GRCm39)	missense	possibly damaging	0.74
R9145:Mau2	UTSW	8	70,480,165 (GRCm39)	missense	probably damaging	1.00
R9514:Mau2	UTSW	8	70,480,153 (GRCm39)	missense	probably damaging	1.00
R9515:Mau2	UTSW	8	70,480,153 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTTGGAACTGCACAGG -3'
(R):5'- TTTAAGAACTCTGGCAGGTGGAG -3'

Sequencing Primer
(F):5'- ATCTGTCCACTGTGGGGAGAAC -3'
(R):5'- AGACTGGGTTCCTGCTCAG -3'

Posted On

2017-10-10