Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Mau2'

208730

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

A930019L04Rik, 9130404D08Rik

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

70468773-70495384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70484142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 149 (W149R)

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: W149R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: W149R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168013
AA Change: W149R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: W149R

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 damaging
Transcript: ENSMUST00000212308
AA Change: W149R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212401

Predicted Effect

probably damaging
Transcript: ENSMUST00000212451
AA Change: W149R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212596

Predicted Effect

probably damaging
Transcript: ENSMUST00000212845
AA Change: W149R

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably damaging	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
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
R6150:Mau2	UTSW	8	70,472,487 (GRCm39)	missense	probably benign	0.23
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'- AAGTCATTCAGGTGCCCAAG -3'
(R):5'- AGTGACCAAGATGGGGCTTG -3'

Sequencing Primer
(F):5'- TCATTCAGGTGCCCAAGGAAGAG -3'
(R):5'- TGCTGGCAAGGCACTGTG -3'

Posted On

2014-06-30