Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Slc35g3'

547172

Institutional Source

Beutler Lab

Gene Symbol

Slc35g3

Ensembl Gene

ENSMUSG00000018776

Gene Name

solute carrier family 35, member G3

Synonyms

Amac1

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

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

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69650710-69652670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69652476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000156297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213] [ENSMUST00000102586] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000132528] [ENSMUST00000231829] [ENSMUST00000153943] [ENSMUST00000156932]

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 benign
Transcript: ENSMUST00000102586

SMART Domains

Protein: ENSMUSP00000099646
Gene: ENSMUSG00000018776

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 benign
Transcript: ENSMUST00000108639

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108640

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108642

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132528

SMART Domains

Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	56	6.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231829
AA Change: D12G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000153943

SMART Domains

Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	5.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156932

SMART Domains

Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	6e-8	PFAM
low complexity region	68	85	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	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
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
R6634:Slc35g3	UTSW	11	69,651,109 (GRCm39)	missense	probably damaging	1.00
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'- CTCCAGGAACTTTTGGGTCCAC -3'
(R):5'- AATAGCCTGGCCTGCAGAAAG -3'

Sequencing Primer
(F):5'- CAGGAACTTTTGGGTCCACCATTATG -3'
(R):5'- TGGCCTGCAGAAAGAGCCTC -3'

Posted On

2019-05-13