Mutagenetix > Incidental Mutation

Incidental Mutation 'R6115:Nsmce4a'

485078

Institutional Source

Beutler Lab

Gene Symbol

Nsmce4a

Ensembl Gene

ENSMUSG00000040331

Gene Name

NSE4 homolog A, SMC5-SMC6 complex component

Synonyms

2410003A14Rik

MMRRC Submission

044264-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6115 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

130134256-130149111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130148722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 95 (Q95K)

Ref Sequence

ENSEMBL: ENSMUSP00000125300 (fasta)

Gene Model

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

AlphaFold

G3XA30

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: Q95K

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

SMART Domains

Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: Q95K

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

Meta Mutation Damage Score

0.0740

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	G	5: 64,055,317 (GRCm39)	Q18E	probably damaging	Het
Acsf3	T	A	8: 123,517,411 (GRCm39)	H402Q	probably damaging	Het
Adam34	T	G	8: 44,105,098 (GRCm39)	Q182H	probably benign	Het
Alx1	G	A	10: 102,864,304 (GRCm39)	P55L	possibly damaging	Het
Arhgef38	A	T	3: 132,838,374 (GRCm39)		probably null	Het
Ccdc102a	T	C	8: 95,629,999 (GRCm39)	N514S	probably benign	Het
Corin	T	A	5: 72,518,072 (GRCm39)	T317S	probably damaging	Het
Ctnna2	A	G	6: 77,613,822 (GRCm39)	V256A	probably benign	Het
Dhx29	A	T	13: 113,089,335 (GRCm39)		probably null	Het
Dnah2	C	A	11: 69,337,475 (GRCm39)	D3209Y	probably damaging	Het
Dnhd1	A	G	7: 105,363,194 (GRCm39)	T3919A	probably benign	Het
F7	T	A	8: 13,083,958 (GRCm39)	N214K	probably benign	Het
Fam3b	T	G	16: 97,276,568 (GRCm39)	Q177H	possibly damaging	Het
Fign	T	C	2: 63,809,654 (GRCm39)	I539V	probably benign	Het
Hc	T	G	2: 34,903,050 (GRCm39)	D1067A	probably damaging	Het
Herc6	A	G	6: 57,560,191 (GRCm39)	D77G	probably benign	Het
Hmg20a	A	T	9: 56,397,116 (GRCm39)	E305D	possibly damaging	Het
Il16	G	A	7: 83,301,775 (GRCm39)	Q116*	probably null	Het
Kif13a	T	A	13: 46,954,789 (GRCm39)	I648F	probably damaging	Het
Lactb	G	T	9: 66,874,969 (GRCm39)	N374K	possibly damaging	Het
Lmx1b	T	C	2: 33,459,118 (GRCm39)	D145G	probably damaging	Het
Lrfn4	T	C	19: 4,663,937 (GRCm39)	D199G	probably damaging	Het
Lrrc49	A	T	9: 60,522,444 (GRCm39)	V307E	possibly damaging	Het
Magi1	A	C	6: 93,685,051 (GRCm39)	S776A	possibly damaging	Het
Mthfsl	T	A	9: 88,570,807 (GRCm39)	*147L	probably null	Het
Or1j15	A	T	2: 36,458,963 (GRCm39)	M118L	probably damaging	Het
Or4k37	A	G	2: 111,159,558 (GRCm39)	T265A	probably benign	Het
Or4k49	A	T	2: 111,494,987 (GRCm39)	K139*	probably null	Het
Or5b24	T	C	19: 12,912,948 (GRCm39)	V282A	possibly damaging	Het
Pcdha7	A	G	18: 37,107,788 (GRCm39)	E271G	probably damaging	Het
Pcdhga8	T	A	18: 37,860,596 (GRCm39)	F551I	possibly damaging	Het
Prpf31	T	C	7: 3,642,705 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,236,742 (GRCm39)	V220I	possibly damaging	Het
Rnf170	T	C	8: 26,615,994 (GRCm39)	F95S	possibly damaging	Het
Scn9a	T	A	2: 66,393,973 (GRCm39)	Y200F	possibly damaging	Het
Sfpq	A	T	4: 126,915,141 (GRCm39)		probably null	Het
Slc9c1	A	T	16: 45,376,132 (GRCm39)	Y406F	probably damaging	Het
Stk32c	G	T	7: 138,700,628 (GRCm39)	Y200*	probably null	Het
Svil	A	G	18: 5,108,675 (GRCm39)	R1938G	probably damaging	Het
Sycp2	G	C	2: 177,990,038 (GRCm39)	R1403G	probably benign	Het
Tm9sf4	T	C	2: 153,024,409 (GRCm39)		probably null	Het
Tmc3	A	T	7: 83,264,170 (GRCm39)	M633L	possibly damaging	Het
Tmem163	T	C	1: 127,605,185 (GRCm39)	D61G	possibly damaging	Het
Unc5b	C	A	10: 60,613,325 (GRCm39)	A304S	probably benign	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Vmn2r18	A	T	5: 151,508,462 (GRCm39)	S221T	possibly damaging	Het
Vmn2r85	T	G	10: 130,258,672 (GRCm39)	Y461S	probably damaging	Het
Yod1	T	C	1: 130,646,800 (GRCm39)	F226L	possibly damaging	Het
Zbtb4	T	C	11: 69,667,148 (GRCm39)	I151T	probably damaging	Het
Zfp110	A	T	7: 12,583,701 (GRCm39)	Q783L	probably damaging	Het

Other mutations in Nsmce4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02693:Nsmce4a	APN	7	130,144,538 (GRCm39)	missense	probably damaging	1.00
R0302:Nsmce4a	UTSW	7	130,147,623 (GRCm39)	critical splice donor site	probably benign
R0521:Nsmce4a	UTSW	7	130,138,732 (GRCm39)	missense	probably damaging	1.00
R0529:Nsmce4a	UTSW	7	130,135,536 (GRCm39)	missense	probably benign	0.01
R1378:Nsmce4a	UTSW	7	130,139,900 (GRCm39)	missense	probably benign	0.05
R1542:Nsmce4a	UTSW	7	130,147,623 (GRCm39)	critical splice donor site	probably null
R2249:Nsmce4a	UTSW	7	130,140,769 (GRCm39)	missense	probably benign	0.00
R4860:Nsmce4a	UTSW	7	130,135,321 (GRCm39)	unclassified	probably benign
R5240:Nsmce4a	UTSW	7	130,138,754 (GRCm39)	missense	probably damaging	1.00
R5356:Nsmce4a	UTSW	7	130,138,778 (GRCm39)	missense	probably damaging	1.00
R5374:Nsmce4a	UTSW	7	130,139,900 (GRCm39)	missense	probably benign	0.05
R6350:Nsmce4a	UTSW	7	130,140,829 (GRCm39)	missense	probably damaging	0.98
R6451:Nsmce4a	UTSW	7	130,144,479 (GRCm39)
R7203:Nsmce4a	UTSW	7	130,141,602 (GRCm39)	missense	probably benign	0.00
R7422:Nsmce4a	UTSW	7	130,135,547 (GRCm39)	missense	probably benign	0.20
R8187:Nsmce4a	UTSW	7	130,144,519 (GRCm39)	missense	probably benign	0.04
R8873:Nsmce4a	UTSW	7	130,148,886 (GRCm39)	missense	unknown
R8989:Nsmce4a	UTSW	7	130,141,587 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGCTGAGCTCAAGTCACCAC -3'
(R):5'- AAGTTGCAAGGCGAATTGGC -3'

Sequencing Primer
(F):5'- GCTTTTCCAGCCGGCCAC -3'
(R):5'- CGAATTGGCGCGATGTCTG -3'

Posted On

2017-08-16