Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Mau2'

67559

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

A930019L04Rik, 9130404D08Rik

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70468773-70495384 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70476262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054763 (fasta)

Gene Model

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

AlphaFold

Q9D2X5

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 benign
Transcript: ENSMUST00000168013
AA Change: V442A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: V442A

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

possibly damaging
Transcript: ENSMUST00000212308
AA Change: V442A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212401

Predicted Effect

probably benign
Transcript: ENSMUST00000212451
AA Change: V442A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212845
AA Change: V442A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.1570

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	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
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
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'- AACAAGCAAGAGCCCCAGGTTG -3'
(R):5'- TGAGTCTGAAAGGAGCCATTGTGC -3'

Sequencing Primer
(F):5'- tgaacccagagacccacc -3'
(R):5'- AGCCATTGTGCAGCTCTG -3'

Posted On

2013-09-03