Mutagenetix > Incidental Mutation

Incidental Mutation 'R8782:Mau2'

670330

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

A930019L04Rik, 9130404D08Rik

MMRRC Submission

068630-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70468773-70495384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70485845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 121 (E121G)

Ref Sequence

ENSEMBL: ENSMUSP00000148479 (fasta)

Gene Model

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

AlphaFold

Q9D2X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050561
AA Change: E121G

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: E121G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168013
AA Change: E121G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: E121G

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

possibly damaging
Transcript: ENSMUST00000212308
AA Change: E121G

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212451
AA Change: E121G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212845
AA Change: E121G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.3908

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	G	9: 55,910,242 (GRCm39)		probably null	Het
Abhd16b	G	T	2: 181,136,208 (GRCm39)	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035 (GRCm38)	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,678 (GRCm39)	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,373,242 (GRCm39)	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,714,010 (GRCm39)	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,501,533 (GRCm39)	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,234,917 (GRCm39)	D205G	probably benign	Het
Brd1	G	T	15: 88,614,834 (GRCm39)	C20*	probably null	Het
Camsap2	T	C	1: 136,204,957 (GRCm39)	M519V		Het
Caprin1	T	A	2: 103,603,133 (GRCm39)	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,161,712 (GRCm39)	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chat	A	T	14: 32,146,155 (GRCm39)	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227 (GRCm39)	S207F	unknown	Het
Commd10	T	A	18: 47,096,809 (GRCm39)	L72Q	probably damaging	Het
Crim1	T	C	17: 78,508,306 (GRCm39)	C37R	probably damaging	Het
Csgalnact1	T	A	8: 68,811,307 (GRCm39)	K454N	probably damaging	Het
Ctif	G	T	18: 75,654,868 (GRCm39)	H219Q	probably benign	Het
Ddx10	A	T	9: 53,146,588 (GRCm39)	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,473,538 (GRCm39)	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,179,168 (GRCm39)	D343E	probably damaging	Het
Dync2i1	C	T	12: 116,205,332 (GRCm39)	R419H	probably damaging	Het
Fam120b	A	T	17: 15,622,472 (GRCm39)	Q150L	probably damaging	Het
Fam217a	G	A	13: 35,095,033 (GRCm39)	P242L	probably benign	Het
Gcnt2	A	G	13: 41,072,229 (GRCm39)	T291A	probably damaging	Het
Gm14305	T	G	2: 176,413,213 (GRCm39)	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,404,149 (GRCm39)	D307G	probably damaging	Het
Hcls1	A	G	16: 36,777,663 (GRCm39)	M261V	probably benign	Het
Hmcn1	A	G	1: 150,540,636 (GRCm39)	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,793,305 (GRCm39)	W5R	possibly damaging	Het
Impg2	A	G	16: 56,079,818 (GRCm39)	T541A	probably damaging	Het
Ints1	A	T	5: 139,744,952 (GRCm39)	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,292,437 (GRCm39)	S542T	probably benign	Het
Kif18a	C	T	2: 109,127,118 (GRCm39)	R351C	probably damaging	Het
Lactbl1	T	G	4: 136,358,329 (GRCm39)	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,025,051 (GRCm39)	S260P	probably benign	Het
Lrba	A	T	3: 86,549,976 (GRCm39)	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,148,270 (GRCm39)	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055 (GRCm39)	F429L	probably damaging	Het
Matk	A	G	10: 81,098,294 (GRCm39)	K402E	probably damaging	Het
Mrgprx2	A	G	7: 48,132,299 (GRCm39)	L173P	probably damaging	Het
Mroh1	A	G	15: 76,298,496 (GRCm39)	T369A	possibly damaging	Het
Myh6	A	G	14: 55,187,357 (GRCm39)	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,459,873 (GRCm39)	D1895G	probably benign	Het
Ncr1	A	G	7: 4,340,763 (GRCm39)	T6A	probably benign	Het
Neb	T	A	2: 52,078,785 (GRCm39)	E5819D	probably benign	Het
Neurod4	T	C	10: 130,106,948 (GRCm39)	N109D	probably damaging	Het
Nsd2	A	T	5: 34,000,485 (GRCm39)	M1L	probably benign	Het
Nwd2	A	G	5: 63,882,540 (GRCm39)	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,579,501 (GRCm39)	N417Y	probably damaging	Het
Oog3	T	A	4: 143,885,962 (GRCm39)	D212V	probably benign	Het
Or13c25	T	A	4: 52,911,693 (GRCm39)	M34L	probably benign	Het
Or5p1	A	T	7: 107,916,296 (GRCm39)	H65L	probably damaging	Het
Parp1	A	G	1: 180,417,127 (GRCm39)	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,807,865 (GRCm39)	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962 (GRCm39)	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,546,250 (GRCm39)	T85A	probably benign	Het
Plxna1	T	C	6: 89,300,220 (GRCm39)	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,719,025 (GRCm39)	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,552,807 (GRCm39)		probably benign	Het
Prl8a1	A	T	13: 27,758,011 (GRCm39)	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,056,616 (GRCm39)		probably benign	Het
Sh3tc1	A	T	5: 35,871,548 (GRCm39)	M328K	possibly damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc35e3	A	G	10: 117,580,798 (GRCm39)	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Speer4a1	T	A	5: 26,241,754 (GRCm39)	H124L	probably benign	Het
Stab2	T	A	10: 86,735,685 (GRCm39)	T1299S	probably benign	Het
Tesmin	T	C	19: 3,445,965 (GRCm39)	V237A	probably benign	Het
Trappc11	A	T	8: 47,951,701 (GRCm39)	I984N	probably benign	Het
Ube2q2	G	A	9: 55,070,354 (GRCm39)		probably null	Het
Vmn1r169	A	G	7: 23,277,403 (GRCm39)	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,483 (GRCm39)	V148L	possibly damaging	Het
Vwce	T	C	19: 10,615,491 (GRCm39)	V124A	probably benign	Het
Zc3h15	G	A	2: 83,491,787 (GRCm39)	R292H	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
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
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'- TGGCATTATCTGTCTAGCCCAAG -3'
(R):5'- CTGGGCATCAAGGTCCTCATTC -3'

Sequencing Primer
(F):5'- GCATTATCTGTCTAGCCCAAGTAAGG -3'
(R):5'- GCATCAAGGTCCTCATTCTGTCC -3'

Posted On

2021-04-30