Mutagenetix > Incidental Mutation

Incidental Mutation 'R6634:Slc35g3'

525397

Institutional Source

Beutler Lab

Gene Symbol

Slc35g3

Ensembl Gene

ENSMUSG00000018776

Gene Name

solute carrier family 35, member G3

Synonyms

Amac1

MMRRC Submission

044756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6634 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69650710-69652670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69651109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 314 (V314D)

Ref Sequence

ENSEMBL: ENSMUSP00000156297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213] [ENSMUST00000102586] [ENSMUST00000231829]

AlphaFold

Q5F297

Predicted Effect

probably benign
Transcript: ENSMUST00000058470

SMART Domains

Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	110	179	5e-37	BLAST
RPOLA_N	246	549	7.02e-203	SMART
Pfam:RNA_pol_Rpb1_4	716	823	3.6e-39	PFAM
Pfam:RNA_pol_Rpb1_5	830	1428	2e-101	PFAM
Pfam:RNA_pol_Rpb1_6	896	1079	1.7e-70	PFAM
Pfam:RNA_pol_Rpb1_7	1164	1299	1.7e-57	PFAM
Pfam:RNA_pol_Rpb1_R	1555	1568	2.1e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1616	1629	8.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1630	1643	1.9e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1644	1657	2.3e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1658	1671	2.2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1672	1685	2.4e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1686	1699	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1700	1713	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1714	1727	2.5e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1728	1741	2.6e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1742	1755	5.3e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1757	1769	5.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1784	1797	2.6e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1798	1811	4.8e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1826	1839	4.3e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1841	1853	2e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1854	1867	6.9e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1868	1881	3.7e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1882	1895	1.2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1896	1909	5e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1910	1923	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1924	1936	2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1931	1954	2.6e-3	PFAM
Pfam:RNA_pol_Rpb1_R	1948	1960	2.5e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071213

SMART Domains

Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	110	179	5e-37	BLAST
RPOLA_N	246	549	7.02e-203	SMART
Pfam:RNA_pol_Rpb1_4	716	823	1.8e-41	PFAM
Pfam:RNA_pol_Rpb1_5	830	1428	4.8e-104	PFAM
Pfam:RNA_pol_Rpb1_6	896	1079	5.2e-74	PFAM
Pfam:RNA_pol_Rpb1_7	1164	1299	1.4e-55	PFAM
low complexity region	1503	1522	N/A	INTRINSIC
low complexity region	1524	1549	N/A	INTRINSIC
Pfam:RNA_pol_Rpb1_R	1578	1591	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1592	1605	2.5e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1606	1619	2.7e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1620	1633	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1634	1647	2.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1648	1661	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1662	1675	2.4e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1676	1689	2.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1690	1703	2.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1704	1717	5.2e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1718	1731	5.5e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1732	1745	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1746	1759	8.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1760	1773	2e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1788	1801	3.3e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1802	1815	2.4e-4	PFAM
Pfam:RNA_pol_Rpb1_R	1816	1829	8.3e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1830	1843	2.2e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1844	1857	1.6e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1858	1871	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1872	1885	6e-7	PFAM
Pfam:RNA_pol_Rpb1_R	1886	1899	4.6e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1893	1909	4.8e-5	PFAM
Pfam:RNA_pol_Rpb1_R	1903	1916	2.8e-6	PFAM
Pfam:RNA_pol_Rpb1_R	1910	1923	1.6e-4	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102586
AA Change: V292D

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099646
Gene: ENSMUSG00000018776
AA Change: V292D

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	96	115	N/A	INTRINSIC
transmembrane domain	128	150	N/A	INTRINSIC
transmembrane domain	182	204	N/A	INTRINSIC
transmembrane domain	211	233	N/A	INTRINSIC
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	277	299	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231829
AA Change: V314D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,094,127 (GRCm39)		probably null	Het
Alox12b	C	A	11: 69,059,647 (GRCm39)	Y566*	probably null	Het
Chl1	T	A	6: 103,667,220 (GRCm39)	S403R	probably damaging	Het
Cpa5	T	A	6: 30,626,363 (GRCm39)	D241E	probably damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2t4	C	A	7: 26,855,213 (GRCm39)	C121*	probably null	Het
Dkkl1	C	A	7: 44,859,882 (GRCm39)	R56L	possibly damaging	Het
Ebf3	A	G	7: 136,802,889 (GRCm39)	V387A	probably damaging	Het
Efcab3	T	C	11: 104,784,609 (GRCm39)	M2797T	probably benign	Het
Fer1l5	A	G	1: 36,450,466 (GRCm39)	T1212A	probably damaging	Het
Galnt16	T	A	12: 80,565,944 (GRCm39)	M1K	probably null	Het
Gm5800	A	G	14: 51,953,595 (GRCm39)	S7P	possibly damaging	Het
Gstp1	T	A	19: 4,085,510 (GRCm39)	H199L	probably benign	Het
Herc1	T	C	9: 66,345,026 (GRCm39)	S1940P	probably benign	Het
Igkv8-24	C	T	6: 70,194,365 (GRCm39)	W14*	probably null	Het
Iqcd	C	A	5: 120,738,556 (GRCm39)	Q125K	probably benign	Het
Lpin2	T	A	17: 71,553,413 (GRCm39)	D812E	probably damaging	Het
Ltb4r2	T	A	14: 55,999,962 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,622,376 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,099,890 (GRCm39)	N600I	possibly damaging	Het
Nedd9	T	A	13: 41,465,584 (GRCm39)	K685N	probably damaging	Het
Or10aa3	A	G	1: 173,878,535 (GRCm39)	I199V	probably benign	Het
Otogl	A	C	10: 107,698,165 (GRCm39)	V735G	probably damaging	Het
Pcnx1	T	A	12: 81,964,656 (GRCm39)	Y274*	probably null	Het
Pias1	A	T	9: 62,826,706 (GRCm39)	I252N	probably damaging	Het
Pitpnm3	T	C	11: 71,942,755 (GRCm39)	D844G	probably null	Het
Satb2	G	T	1: 56,884,880 (GRCm39)	S348*	probably null	Het
Sfxn1	T	A	13: 54,247,048 (GRCm39)	V180D	probably damaging	Het
Tmem200c	C	A	17: 69,149,101 (GRCm39)	D561E	probably benign	Het
Usp53	T	A	3: 122,757,935 (GRCm39)	Q69L	probably benign	Het

Other mutations in Slc35g3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:Slc35g3	APN	11	69,651,317 (GRCm39)	splice site	probably null
IGL03064:Slc35g3	APN	11	69,651,895 (GRCm39)	missense	possibly damaging	0.62
R1615:Slc35g3	UTSW	11	69,651,368 (GRCm39)	missense	probably damaging	0.99
R2086:Slc35g3	UTSW	11	69,651,772 (GRCm39)	missense	probably damaging	1.00
R3796:Slc35g3	UTSW	11	69,651,743 (GRCm39)	missense	probably benign	0.02
R3797:Slc35g3	UTSW	11	69,651,743 (GRCm39)	missense	probably benign	0.02
R3798:Slc35g3	UTSW	11	69,651,743 (GRCm39)	missense	probably benign	0.02
R3799:Slc35g3	UTSW	11	69,651,743 (GRCm39)	missense	probably benign	0.02
R5014:Slc35g3	UTSW	11	69,651,866 (GRCm39)	nonsense	probably null
R5727:Slc35g3	UTSW	11	69,651,280 (GRCm39)	missense	probably benign	0.00
R5774:Slc35g3	UTSW	11	69,651,124 (GRCm39)	missense	probably damaging	1.00
R5935:Slc35g3	UTSW	11	69,652,509 (GRCm39)	start codon destroyed	probably null
R7043:Slc35g3	UTSW	11	69,652,476 (GRCm39)	missense	probably benign	0.03
R7956:Slc35g3	UTSW	11	69,651,623 (GRCm39)	missense	probably damaging	1.00
R8547:Slc35g3	UTSW	11	69,652,446 (GRCm39)	missense	probably benign
R8847:Slc35g3	UTSW	11	69,651,399 (GRCm39)	nonsense	probably null
X0021:Slc35g3	UTSW	11	69,651,563 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCATTTGTTCTCCCATGG -3'
(R):5'- AATGGTCTCTGTACCAGGCCTC -3'

Sequencing Primer
(F):5'- ATTTGTTCTCCCATGGTTTTTATTCC -3'
(R):5'- GGCCTCTTTGTGCTGCAGAC -3'

Posted On

2018-06-22