Mutagenetix > Incidental Mutations

Incidental Mutation 'R5374:Nsmce4a'

428940

Institutional Source

Beutler Lab

Gene Symbol

Nsmce4a

Ensembl Gene

ENSMUSG00000040331

Gene Name

NSE4 homolog A, SMC5-SMC6 complex component

Synonyms

MMRRC Submission

042950-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130532526-130573118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130538170 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 276 (R276Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124096] [ENSMUST00000160289]

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159694

SMART Domains

Protein: ENSMUSP00000124471
Gene: ENSMUSG00000040331

Domain	Start	End	E-Value	Type
Pfam:Nse4-Nse3_bdg	36	94	2.2e-20	PFAM
Pfam:Nse4_C	187	263	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160289
AA Change: R276Q

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: R276Q

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
low complexity region	51	64	N/A	INTRINSIC
Pfam:Nse4-Nse3_bdg	130	186	6.2e-18	PFAM
Pfam:Nse4_C	282	372	6.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207276

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,635	S862G	probably benign	Het
2410089E03Rik	T	C	15: 8,270,803	V3198A	unknown	Het
Adgrf1	G	A	17: 43,291,005		probably benign	Het
Adss	T	G	1: 177,796,388	I3L	probably benign	Het
Anapc7	T	A	5: 122,438,217	D302E	probably benign	Het
Ank3	A	G	10: 69,953,476		probably null	Het
Astn2	A	C	4: 65,397,005	V1145G	probably damaging	Het
Babam2	C	T	5: 32,007,230		probably benign	Het
Blvrb	A	G	7: 27,465,846	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,706,216	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,463,409	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,912	S613R	probably damaging	Het
Cisd2	A	G	3: 135,408,835	V125A	probably benign	Het
Clcn2	C	A	16: 20,709,669	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,107,969	H1121Q	probably benign	Het
Corin	A	T	5: 72,304,953	C876S	probably damaging	Het
Cox7c	T	C	13: 86,046,620	Y19C	probably benign	Het
Cspp1	T	G	1: 10,134,126	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,504,938	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,823,614	D739G	probably benign	Het
Dmxl2	A	G	9: 54,369,189		probably benign	Het
Dock5	A	G	14: 67,805,756	V864A	possibly damaging	Het
Dock7	A	G	4: 98,989,038	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,361,036	Y193C	probably damaging	Het
Dtna	T	C	18: 23,651,613	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,984,625	Y38H	possibly damaging	Het
Eif3m	A	T	2: 105,012,932	I151N	probably damaging	Het
Entpd2	C	T	2: 25,399,726	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,286,800	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,446,391	T348A	probably benign	Het
Ginm1	A	G	10: 7,779,314	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,657,084		probably null	Het
Gm15433	T	A	1: 84,964,112		noncoding transcript	Het
Gm8221	A	G	15: 77,626,152		noncoding transcript	Het
Gramd1c	A	G	16: 43,983,241	V603A	probably benign	Het
Grm1	A	G	10: 11,080,442	S33P	probably benign	Het
Gstp3	T	C	19: 4,057,922	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995	P756S	probably benign	Het
Ly75	A	T	2: 60,311,771	L1332M	possibly damaging	Het
Med1	T	A	11: 98,163,963	K378N	probably damaging	Het
Mn1	A	G	5: 111,421,886		probably null	Het
Mpo	T	C	11: 87,803,611		probably null	Het
Nom1	C	G	5: 29,441,379	R555G	probably damaging	Het
Nt5c	G	A	11: 115,490,817		probably null	Het
Olfr472	T	C	7: 107,903,491	I258T	possibly damaging	Het
Olfr670	G	T	7: 104,959,996	H245Q	probably damaging	Het
Olfr908	CACAACAACA	CACAACA	9: 38,516,138		probably benign	Het
Pcdhga4	T	C	18: 37,685,596	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,312,561	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,186,395	C222S	probably benign	Het
Plch1	A	C	3: 63,698,078	H1468Q	probably benign	Het
Psd2	T	A	18: 36,007,503	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,251,186	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,706,494	S466T	probably benign	Het
Rgsl1	C	T	1: 153,790,307	V986I	probably benign	Het
Rhobtb3	T	C	13: 75,878,895	Y453C	probably damaging	Het
Rspry1	T	C	8: 94,623,008	V8A	probably benign	Het
Rspry1	C	A	8: 94,654,264	R399S	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxfp2	A	G	5: 150,070,260	T596A	probably benign	Het
Sap18b	G	A	8: 95,825,370	A3T	unknown	Het
Serpina3j	A	G	12: 104,314,727	D53G	probably damaging	Het
Skint3	T	A	4: 112,298,189	D381E	possibly damaging	Het
Slirp	T	C	12: 87,449,422	S96P	possibly damaging	Het
Snx6	T	C	12: 54,770,728	E128G	probably damaging	Het
Stap1	A	G	5: 86,090,928	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,851,957	N1764K	probably damaging	Het
Thap2	A	T	10: 115,372,839	Y125*	probably null	Het
Ticrr	T	G	7: 79,690,942	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,740,156	R1793C	unknown	Het
Trpm3	C	T	19: 22,926,184	R945*	probably null	Het
Ugt1a10	T	A	1: 88,055,910	D143E	probably damaging	Het
Ush2a	C	T	1: 188,755,206	T3057M	probably benign	Het
Zc3h6	A	T	2: 129,002,156	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,913,510	S628P	probably benign	Het
Zufsp	T	C	10: 33,927,466	N541D	possibly damaging	Het

Other mutations in Nsmce4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02693:Nsmce4a	APN	7	130542808	missense	probably damaging	1.00
R0302:Nsmce4a	UTSW	7	130545893	critical splice donor site	probably benign
R0521:Nsmce4a	UTSW	7	130537002	missense	probably damaging	1.00
R0529:Nsmce4a	UTSW	7	130533806	missense	probably benign	0.01
R1378:Nsmce4a	UTSW	7	130538170	missense	probably benign	0.05
R1542:Nsmce4a	UTSW	7	130545893	critical splice donor site	probably null
R2249:Nsmce4a	UTSW	7	130539039	missense	probably benign	0.00
R4860:Nsmce4a	UTSW	7	130533591	unclassified	probably benign
R5240:Nsmce4a	UTSW	7	130537024	missense	probably damaging	1.00
R5356:Nsmce4a	UTSW	7	130537048	missense	probably damaging	1.00
R6115:Nsmce4a	UTSW	7	130546992	missense	probably benign	0.05
R6350:Nsmce4a	UTSW	7	130539099	missense	probably damaging	0.98
R6451:Nsmce4a	UTSW	7	130542749
R7203:Nsmce4a	UTSW	7	130539872	missense	probably benign	0.00
R7422:Nsmce4a	UTSW	7	130533817	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACATCACATGAGGTATTTAGGAGG -3'
(R):5'- CCAGAACTTTGAGGTTTGGAC -3'

Sequencing Primer
(F):5'- AGCCTAAACTACTGAGTTCCGGG -3'
(R):5'- TGAGGTTTGGACGGGCAATAG -3'

Posted On

2016-09-06