Mutagenetix > Incidental Mutation

Incidental Mutation 'R5356:Nsmce4a'

424106

Institutional Source

Beutler Lab

Gene Symbol

Nsmce4a

Ensembl Gene

ENSMUSG00000040331

Gene Name

NSE4 homolog A, SMC5-SMC6 complex component

Synonyms

2410003A14Rik

MMRRC Submission

042935-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130134256-130149111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130138778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 289 (V289L)

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 damaging
Transcript: ENSMUST00000160289
AA Change: V289L

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

SMART Domains

Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: V289L

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,119,405 (GRCm39)	T162I	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Amn1	T	C	6: 149,068,392 (GRCm39)	I205M	possibly damaging	Het
Ankrd50	A	C	3: 38,510,334 (GRCm39)	S678A	probably damaging	Het
Atg13	G	A	2: 91,522,811 (GRCm39)	R78*	probably null	Het
Bmper	T	G	9: 23,285,157 (GRCm39)	F235L	probably benign	Het
Btn2a2	C	T	13: 23,667,045 (GRCm39)	V187I	probably benign	Het
Cabs1	G	A	5: 88,127,492 (GRCm39)	V48I	probably benign	Het
Cacnb3	A	G	15: 98,539,498 (GRCm39)	I212V	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cep162	T	C	9: 87,088,948 (GRCm39)	E978G	probably damaging	Het
Cmya5	A	T	13: 93,199,993 (GRCm39)	L3445Q	probably damaging	Het
Cntrl	T	A	2: 35,038,911 (GRCm39)	L1067*	probably null	Het
Cyp20a1	G	A	1: 60,418,546 (GRCm39)	V329I	probably benign	Het
Cyp2d11	A	T	15: 82,274,712 (GRCm39)	N288K	probably benign	Het
D430041D05Rik	T	G	2: 104,085,754 (GRCm39)	T932P	probably damaging	Het
Dlk1	T	A	12: 109,421,447 (GRCm39)	C54S	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Entpd6	T	A	2: 150,612,303 (GRCm39)	F416L	probably damaging	Het
Evx1	A	G	6: 52,293,602 (GRCm39)	T257A	probably benign	Het
Fpr-rs3	A	T	17: 20,844,596 (GRCm39)	S182T	probably damaging	Het
Glra3	A	T	8: 56,393,936 (GRCm39)	I16F	probably benign	Het
Gm11437	C	A	11: 84,043,513 (GRCm39)	L259F	possibly damaging	Het
Gorasp1	A	T	9: 119,757,024 (GRCm39)	L386Q	probably damaging	Het
Gpsm1	T	C	2: 26,230,574 (GRCm39)	V508A	possibly damaging	Het
Gstm1	T	A	3: 107,920,052 (GRCm39)	I180F	probably benign	Het
Hc	T	C	2: 34,885,007 (GRCm39)	D1400G	probably benign	Het
Lrp2	A	G	2: 69,295,052 (GRCm39)	V3422A	possibly damaging	Het
Map3k4	A	G	17: 12,466,195 (GRCm39)	V1128A	possibly damaging	Het
Mboat2	G	C	12: 25,007,572 (GRCm39)	V363L	probably benign	Het
Mgat3	A	G	15: 80,095,811 (GRCm39)	I213V	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mtf2	A	T	5: 108,254,476 (GRCm39)	T426S	possibly damaging	Het
Muc3a	T	C	5: 137,245,021 (GRCm39)	I151V	probably benign	Het
Myh6	T	C	14: 55,191,219 (GRCm39)	E874G	probably damaging	Het
Myo15a	G	A	11: 60,389,192 (GRCm39)	G2030R	probably damaging	Het
Ncdn	T	C	4: 126,641,021 (GRCm39)	Y493C	probably damaging	Het
Ncoa6	A	G	2: 155,263,112 (GRCm39)	F441L	probably damaging	Het
Ndc80	A	T	17: 71,828,103 (GRCm39)	S75T	possibly damaging	Het
Nf1	T	C	11: 79,364,282 (GRCm39)	F1571L	possibly damaging	Het
Nherf2	A	G	17: 24,860,945 (GRCm39)	V88A	probably damaging	Het
Nme8	A	G	13: 19,836,469 (GRCm39)	F236L	probably damaging	Het
Ntrk2	A	T	13: 59,208,056 (GRCm39)	D634V	probably damaging	Het
Pcsk6	G	C	7: 65,620,340 (GRCm39)	E479Q	probably damaging	Het
Pkd1	A	G	17: 24,812,551 (GRCm39)	Q3828R	probably damaging	Het
Ptov1	T	A	7: 44,514,089 (GRCm39)	T295S	probably damaging	Het
Ptprf	A	G	4: 118,083,535 (GRCm39)	M824T	probably benign	Het
Rbm6	T	A	9: 107,729,865 (GRCm39)	H129L	probably damaging	Het
Rbm8a2	A	G	1: 175,806,255 (GRCm39)	I74T	possibly damaging	Het
Ret	A	G	6: 118,174,079 (GRCm39)	S6P	possibly damaging	Het
Rspo3	A	T	10: 29,376,064 (GRCm39)	C70*	probably null	Het
Sike1	C	A	3: 102,909,106 (GRCm39)	A202D	possibly damaging	Het
Slco4c1	G	T	1: 96,759,835 (GRCm39)	P499H	probably damaging	Het
Smg1	A	G	7: 117,794,356 (GRCm39)		probably benign	Het
Tmem135	A	G	7: 88,954,723 (GRCm39)	V98A	probably benign	Het
Tor4a	T	A	2: 25,085,918 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,524,166 (GRCm39)	F397S	probably damaging	Het
Tyk2	A	G	9: 21,027,040 (GRCm39)	I581T	probably benign	Het
Unc13a	C	T	8: 72,115,158 (GRCm39)	D164N	probably benign	Het
Vwa3b	T	C	1: 37,153,664 (GRCm39)	I502T	probably damaging	Het
Xrcc6	A	G	15: 81,913,419 (GRCm39)	T6A	probably benign	Het
Zfp524	T	C	7: 5,021,432 (GRCm39)	V320A	probably benign	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
R5374:Nsmce4a	UTSW	7	130,139,900 (GRCm39)	missense	probably benign	0.05
R6115:Nsmce4a	UTSW	7	130,148,722 (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'- CTGGCCTGCTTCAGTAGTTG -3'
(R):5'- ATGGTCTATACCCCACAGCAG -3'

Sequencing Primer
(F):5'- CTGCTTCAGTAGTTGTGAAAATTTCC -3'
(R):5'- AGGAGGCCTGCGTGTTC -3'

Posted On

2016-08-04