Mutagenetix > Incidental Mutation

Incidental Mutation 'R5774:Slc35g3'

445571

Institutional Source

Beutler Lab

Gene Symbol

Slc35g3

Ensembl Gene

ENSMUSG00000018776

Gene Name

solute carrier family 35, member G3

Synonyms

Amac1

MMRRC Submission

043373-MU

Accession Numbers

Essential gene?

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

Stock #

R5774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69650710-69652670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69651124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 309 (V309A)

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

probably damaging
Transcript: ENSMUST00000102586
AA Change: V287A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099646
Gene: ENSMUSG00000018776
AA Change: V287A

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: V309A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,581,668 (GRCm39)	L62M	probably damaging	Het
Abcc9	G	A	6: 142,574,285 (GRCm39)	T949I	probably damaging	Het
Adam4	C	T	12: 81,467,460 (GRCm39)	S387N	probably damaging	Het
Akap11	T	C	14: 78,748,407 (GRCm39)	S1327G	probably damaging	Het
Arhgap1	A	G	2: 91,484,453 (GRCm39)	T12A	possibly damaging	Het
Arhgap28	A	G	17: 68,188,487 (GRCm39)	S228P	possibly damaging	Het
Atp6v1b2	A	T	8: 69,554,613 (GRCm39)	D106V	probably damaging	Het
Atp9b	T	G	18: 80,977,147 (GRCm39)	D3A	probably damaging	Het
Bptf	A	G	11: 107,001,963 (GRCm39)	F383S	probably damaging	Het
Cdh24	T	C	14: 54,876,514 (GRCm39)	T104A	probably damaging	Het
Cep55	A	G	19: 38,051,103 (GRCm39)	E171G	probably damaging	Het
Cntrl	T	A	2: 35,052,873 (GRCm39)	M1126K	probably benign	Het
Cts3	A	T	13: 61,716,184 (GRCm39)	I59N	probably damaging	Het
Ddx52	A	G	11: 83,836,960 (GRCm39)	I150M	probably damaging	Het
Dennd6a	T	C	14: 26,300,974 (GRCm39)	V62A	probably benign	Het
Dpep1	C	A	8: 123,926,721 (GRCm39)	D211E	probably damaging	Het
Gm1527	T	C	3: 28,972,239 (GRCm39)	V452A	probably benign	Het
Hmcn2	T	C	2: 31,299,147 (GRCm39)	V2831A	possibly damaging	Het
Hrob	T	A	11: 102,146,495 (GRCm39)	I257N	possibly damaging	Het
Hydin	G	T	8: 111,298,547 (GRCm39)	E3722*	probably null	Het
Il17a	A	G	1: 20,803,997 (GRCm39)	S131G	probably benign	Het
Ing3	C	T	6: 21,967,688 (GRCm39)	P119S	probably benign	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lca5l	G	T	16: 95,977,261 (GRCm39)	Q177K	probably benign	Het
Lrrc61	C	T	6: 48,545,133 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,018,106 (GRCm39)	Y188C	probably damaging	Het
Mdk	T	C	2: 91,761,569 (GRCm39)	E36G	probably damaging	Het
Mmp12	T	C	9: 7,354,823 (GRCm39)	I272T	possibly damaging	Het
Myh4	A	T	11: 67,144,034 (GRCm39)	K1135*	probably null	Het
Nup188	T	A	2: 30,191,060 (GRCm39)	Y96N	probably damaging	Het
Or8k33	A	T	2: 86,384,351 (GRCm39)	V39E	possibly damaging	Het
Pank4	G	A	4: 155,065,119 (GRCm39)	G806D	probably damaging	Het
Parp14	T	C	16: 35,678,780 (GRCm39)	Y396C	probably damaging	Het
Pcdhb8	T	A	18: 37,489,738 (GRCm39)	I472N	probably damaging	Het
Sema3a	T	A	5: 13,573,131 (GRCm39)	W220R	probably damaging	Het
Slc6a6	A	G	6: 91,721,981 (GRCm39)	M394V	probably damaging	Het
Specc1l	G	A	10: 75,081,234 (GRCm39)	R210H	probably damaging	Het
Spocd1	T	A	4: 129,845,579 (GRCm39)	S480T	probably benign	Het
Sptbn5	T	A	2: 119,880,939 (GRCm39)		noncoding transcript	Het
Srrm2	A	G	17: 24,037,249 (GRCm39)		probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Topbp1	A	G	9: 103,205,698 (GRCm39)	K779E	probably benign	Het
Trank1	T	A	9: 111,220,294 (GRCm39)	F2344I	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Ube4a	G	A	9: 44,864,395 (GRCm39)	P66L	probably damaging	Het
Utp6	A	T	11: 79,844,424 (GRCm39)	F200L	probably benign	Het
Vmn2r117	A	T	17: 23,696,176 (GRCm39)	H410Q	probably damaging	Het
Vps33b	C	T	7: 79,935,088 (GRCm39)	H344Y	probably benign	Het
Xpo5	C	T	17: 46,552,772 (GRCm39)	R1145*	probably null	Het
Zbed4	T	A	15: 88,665,852 (GRCm39)	F640Y	possibly damaging	Het
Zfp618	C	T	4: 63,050,799 (GRCm39)	R527C	probably damaging	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
R5935:Slc35g3	UTSW	11	69,652,509 (GRCm39)	start codon destroyed	probably null
R6634:Slc35g3	UTSW	11	69,651,109 (GRCm39)	missense	probably damaging	1.00
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'- CAGGCATTTGTTCTCCCATG -3'
(R):5'- GGGCTAATGGTCTCTGTACC -3'

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

Posted On

2016-11-21