Mutagenetix > Incidental Mutations

Incidental Mutation 'R5527:Supv3l1'

431933

Institutional Source

Beutler Lab

Gene Symbol

Supv3l1

Ensembl Gene

ENSMUSG00000020079

Gene Name

suppressor of var1, 3-like 1 (S. cerevisiae)

Synonyms

MMRRC Submission

043085-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62429209-62449738 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62429829 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 644 (R644Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020273]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020273
AA Change: R644Q

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

SMART Domains

Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: R644Q

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	47	56	N/A	INTRINSIC
HELICc	379	475	1.44e-18	SMART
Pfam:SUV3_C	625	672	4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161941

Predicted Effect

probably benign
Transcript: ENSMUST00000162023

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit embryonic lethality between E9.5 and E12.5. Mice homozygous for a knock-out allele exhibit embryonic lethality between E8.5 and 9.5. Mice heterozygous for this allele produce offspring with mitochondrial defects regardless of offspring genotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,460,978	Y1051N	probably benign	Het
Bach1	T	C	16: 87,719,545	S325P	probably benign	Het
Baz2a	T	C	10: 128,124,917	S1529P	probably damaging	Het
BC027072	A	T	17: 71,752,640	V14D	probably damaging	Het
Bicd1	T	C	6: 149,494,636	L168P	probably damaging	Het
Cat	A	G	2: 103,472,973	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,802,664	M426T	probably benign	Het
Cdk7	C	T	13: 100,730,472	V38I	probably damaging	Het
Cenpj	T	C	14: 56,526,983	Y1324C	probably damaging	Het
Ddx47	C	A	6: 135,011,694	A18E	probably benign	Het
Dnah2	G	A	11: 69,437,188	Q3370*	probably null	Het
Dnah6	C	T	6: 73,159,229	V976I	probably benign	Het
Dock7	C	T	4: 98,953,868		probably benign	Het
Dpy19l3	A	T	7: 35,714,130	I362N	possibly damaging	Het
Fam118a	A	T	15: 85,058,798	T343S	probably benign	Het
Fcgbp	T	A	7: 28,093,635	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,833,746	Y83C	probably damaging	Het
Flt4	T	C	11: 49,634,754	I709T	probably damaging	Het
Gga3	G	T	11: 115,587,436	A510D	probably damaging	Het
Heatr1	T	C	13: 12,402,760	I264T	probably damaging	Het
Heatr1	T	C	13: 12,404,948	I384T	probably benign	Het
Hes2	T	C	4: 152,160,392	V106A	probably benign	Het
Igf1r	T	A	7: 68,207,821	M1083K	probably damaging	Het
Il7r	A	T	15: 9,512,924	D166E	probably benign	Het
Ipo4	G	A	14: 55,632,050		probably null	Het
Klk1b26	T	C	7: 44,012,763	I15T	probably benign	Het
Krt42	T	C	11: 100,263,295		probably benign	Het
Lag3	T	C	6: 124,908,629	T263A	probably damaging	Het
Lilra6	T	A	7: 3,914,587		probably benign	Het
Lrrc31	T	A	3: 30,691,228	H90L	probably damaging	Het
Lvrn	G	A	18: 46,873,803	D331N	probably damaging	Het
Me2	A	T	18: 73,791,116	W342R	probably damaging	Het
Mob2	A	G	7: 142,009,410	F220S	probably damaging	Het
Mroh4	A	G	15: 74,615,016	I342T	probably damaging	Het
Naa15	T	C	3: 51,441,947	Y46H	probably damaging	Het
Neb	A	G	2: 52,334,453	V10A	unknown	Het
Nlrc5	A	G	8: 94,490,416	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,214,352	T2A	possibly damaging	Het
Nrros	T	C	16: 32,144,470	N207S	probably damaging	Het
Olfr1356	C	T	10: 78,847,775	V47M	probably benign	Het
Olfr553	A	T	7: 102,614,561	S143T	probably benign	Het
Ptprz1	C	T	6: 23,000,053	T714I	possibly damaging	Het
Rp1	T	C	1: 4,346,393	T1499A	possibly damaging	Het
Rsg1	C	A	4: 141,219,992	A228D	probably damaging	Het
Rubcn	T	C	16: 32,826,711	K771E	probably damaging	Het
Sbds	T	C	5: 130,246,406	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,785,629	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,011,861	I1129V	probably benign	Het
Spef1	T	A	2: 131,172,741	D87V	probably damaging	Het
Thoc6	A	G	17: 23,670,795	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,407,921	L176P	probably damaging	Het
Tma16	A	G	8: 66,484,124	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,502,054		probably null	Het
Ube2j1	C	T	4: 33,045,164	P146S	probably benign	Het
Ubr4	T	A	4: 139,480,788	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,865,838	D224G	probably damaging	Het
Uxs1	T	C	1: 43,780,080	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,086,617	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,858,367	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,290,235	N524D	probably benign	Het
Xrn2	A	T	2: 147,029,755	I366L	probably benign	Het
Zfp236	A	T	18: 82,658,034	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,226,362	E415Q	probably benign	Het

Other mutations in Supv3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03067:Supv3l1	APN	10	62429821	missense	probably damaging	1.00
R0090:Supv3l1	UTSW	10	62429706	missense	probably benign	0.00
R0477:Supv3l1	UTSW	10	62430585	missense	probably damaging	0.98
R0946:Supv3l1	UTSW	10	62429820	missense	probably damaging	1.00
R1460:Supv3l1	UTSW	10	62443383	splice site	probably benign
R1546:Supv3l1	UTSW	10	62432446	missense	probably benign	0.08
R1941:Supv3l1	UTSW	10	62449612	missense	probably benign
R3916:Supv3l1	UTSW	10	62449420	missense	possibly damaging	0.67
R5030:Supv3l1	UTSW	10	62430615	missense	probably damaging	1.00
R5040:Supv3l1	UTSW	10	62447065	missense	possibly damaging	0.93
R5051:Supv3l1	UTSW	10	62443417	missense	probably damaging	0.99
R5085:Supv3l1	UTSW	10	62435512	missense	probably benign	0.00
R5288:Supv3l1	UTSW	10	62430596	missense	possibly damaging	0.90
R5359:Supv3l1	UTSW	10	62432399	missense	probably damaging	0.96
R5372:Supv3l1	UTSW	10	62432357	missense	probably damaging	0.99
R5384:Supv3l1	UTSW	10	62430596	missense	possibly damaging	0.90
R5385:Supv3l1	UTSW	10	62430596	missense	possibly damaging	0.90
R5602:Supv3l1	UTSW	10	62430592	missense	possibly damaging	0.81
R5713:Supv3l1	UTSW	10	62430504	missense	possibly damaging	0.91
R6150:Supv3l1	UTSW	10	62435722	missense	possibly damaging	0.90
R6220:Supv3l1	UTSW	10	62439021	missense	possibly damaging	0.82
R6903:Supv3l1	UTSW	10	62441237	missense	probably damaging	1.00
R6941:Supv3l1	UTSW	10	62430586	missense	possibly damaging	0.86
R7187:Supv3l1	UTSW	10	62435549	missense	probably damaging	1.00
R7250:Supv3l1	UTSW	10	62445067	missense	probably damaging	1.00
R7438:Supv3l1	UTSW	10	62430470	critical splice donor site	probably null
R7439:Supv3l1	UTSW	10	62430615	missense	probably damaging	0.99
R7515:Supv3l1	UTSW	10	62432311	missense	probably damaging	1.00
R7579:Supv3l1	UTSW	10	62435708	missense	probably damaging	1.00
R7579:Supv3l1	UTSW	10	62435709	missense	possibly damaging	0.61
RF016:Supv3l1	UTSW	10	62437508	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TCTTGGAGGCTCCTGACAAC -3'
(R):5'- GTTTTCACAGGGTTTCCAGCC -3'

Sequencing Primer
(F):5'- TCCTGACAACCGTGACTGGTC -3'
(R):5'- CTGCAGTGGAGTATATTAGAATCCCG -3'

Posted On

2016-10-05