Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:Supv3l1'

309758

Institutional Source

Beutler Lab

Gene Symbol

Supv3l1

Ensembl Gene

ENSMUSG00000020079

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

62429209-62449738 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62449420 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 89 (D89G)

Ref Sequence

ENSEMBL: ENSMUSP00000020273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020273] [ENSMUST00000181110]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020273
AA Change: D89G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: D89G

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

unknown
Transcript: ENSMUST00000162023
AA Change: D88G

Predicted Effect

probably benign
Transcript: ENSMUST00000181110

SMART Domains

Protein: ENSMUSP00000137990
Gene: ENSMUSG00000097129

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	39	53	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	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
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
R5527:Supv3l1	UTSW	10	62429829	missense	probably damaging	1.00
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
R7923:Supv3l1	UTSW	10	62445081	missense	probably damaging	0.98
R7973:Supv3l1	UTSW	10	62449423	missense	probably damaging	1.00
R8098:Supv3l1	UTSW	10	62429503	missense	probably benign	0.01
R8327:Supv3l1	UTSW	10	62441225	missense	probably damaging	1.00
RF016:Supv3l1	UTSW	10	62437508	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGGACAAAACTCTTAACCTCCTCG -3'
(R):5'- ATGTCCTTGCCTCGGTGTAC -3'

Sequencing Primer
(F):5'- TCTTAACCTCCTCGACCGAAGAG -3'
(R):5'- GCCTCGGTGTACCTTGCTG -3'

Posted On

2015-04-17