Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Mau2'

694571

Institutional Source

Beutler Lab

Gene Symbol

Mau2

Ensembl Gene

ENSMUSG00000031858

Gene Name

MAU2 sister chromatid cohesion factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70016123-70042734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70027515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 314 (K314M)

Ref Sequence

ENSEMBL: ENSMUSP00000148479 (fasta)

Gene Model

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

AlphaFold

Q9D2X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000050561
AA Change: K314M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: K314M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168013
AA Change: K314M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: K314M

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 damaging
Transcript: ENSMUST00000212308
AA Change: K314M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212451
AA Change: K314M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212845
AA Change: K314M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	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
R4893:Mau2	UTSW	8	70030640	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
R8350:Mau2	UTSW	8	70042592	missense	probably damaging	1.00
R8782:Mau2	UTSW	8	70033195	missense	possibly damaging	0.74
R9514:Mau2	UTSW	8	70027503	missense	probably damaging	1.00
R9515:Mau2	UTSW	8	70027503	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAATAGTCAAGTGTGTGGCTAG -3'
(R):5'- ATGATGAAATCCTGCCCAGC -3'

Sequencing Primer
(F):5'- TAGAACCCTAGACTCTGGAGGATTC -3'
(R):5'- GCAACCCTGCTGACCTC -3'

Posted On

2022-01-20