Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Slc35g3'

409602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35g3

Ensembl Gene

ENSMUSG00000018776

Gene Name

solute carrier family 35, member G3

Synonyms

Amac1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

69650710-69652670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69651895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 52 (H52R)

Ref Sequence

ENSEMBL: ENSMUSP00000156297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058470] [ENSMUST00000071213] [ENSMUST00000102586] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000156932] [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 benign
Transcript: ENSMUST00000102586
AA Change: H30R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099646
Gene: ENSMUSG00000018776
AA Change: H30R

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: 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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231829
AA Change: H52R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,174,864 (GRCm39)	T210A	probably damaging	Het
Adgb	T	A	10: 10,276,316 (GRCm39)	T351S	probably benign	Het
Akap9	A	G	5: 4,018,755 (GRCm39)	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,786,939 (GRCm39)	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,306,590 (GRCm39)	F395V	probably damaging	Het
Bub1	T	C	2: 127,659,373 (GRCm39)	N328S	probably benign	Het
Cacna1s	A	G	1: 136,039,731 (GRCm39)	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,386,474 (GRCm39)	F200L	probably damaging	Het
Calca	G	A	7: 114,232,919 (GRCm39)	S110L	probably benign	Het
Ccdc120	G	A	X: 7,601,601 (GRCm39)	P263S	probably benign	Het
Dcaf8l	A	G	X: 88,448,857 (GRCm39)	V424A	possibly damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
F5	A	T	1: 164,023,163 (GRCm39)	T1574S	probably benign	Het
Fam227b	T	C	2: 125,968,762 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,134,680 (GRCm39)	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,787,287 (GRCm39)	I239N	probably benign	Het
Itih1	C	A	14: 30,663,514 (GRCm39)	E163D	probably benign	Het
Lama1	A	T	17: 68,086,099 (GRCm39)	Y1446F	probably benign	Het
Lama3	C	T	18: 12,572,406 (GRCm39)	T537M	possibly damaging	Het
Lars1	G	T	18: 42,354,636 (GRCm39)	Y770*	probably null	Het
Lrp2	A	T	2: 69,313,477 (GRCm39)	V2418E	probably damaging	Het
Maip1	A	G	1: 57,446,359 (GRCm39)	E143G	probably damaging	Het
Mast4	G	T	13: 102,897,472 (GRCm39)	S739*	probably null	Het
Mctp1	C	T	13: 76,949,632 (GRCm39)	Q555*	probably null	Het
Med14	A	T	X: 12,613,742 (GRCm39)	D291E	probably benign	Het
Mgat2	T	A	12: 69,231,777 (GRCm39)	V117D	probably damaging	Het
Mllt1	A	T	17: 57,207,094 (GRCm39)	M250K	probably benign	Het
Myt1	A	C	2: 181,439,594 (GRCm39)	Y372S	probably benign	Het
Naa16	T	A	14: 79,577,068 (GRCm39)	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,135,102 (GRCm39)	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,148,934 (GRCm39)	K180N	probably benign	Het
Nova1	A	G	12: 46,746,861 (GRCm39)	V472A	probably damaging	Het
Nup153	T	C	13: 46,847,315 (GRCm39)	T705A	probably benign	Het
Odf2	T	A	2: 29,791,091 (GRCm39)	N79K	probably benign	Het
Or4f7	A	G	2: 111,644,768 (GRCm39)	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,237,930 (GRCm39)		probably benign	Het
Pde8b	G	A	13: 95,182,906 (GRCm39)	T388I	probably damaging	Het
Phactr2	A	G	10: 13,264,457 (GRCm39)		probably benign	Het
Phf12	T	C	11: 77,874,186 (GRCm39)	S17P	probably damaging	Het
Psmg2	T	A	18: 67,779,102 (GRCm39)	L90*	probably null	Het
Ryr2	T	C	13: 11,658,788 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,423,952 (GRCm39)	F534L	probably benign	Het
Sin3b	A	G	8: 73,483,686 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,947,818 (GRCm39)	L463Q	probably damaging	Het
Slc6a3	G	T	13: 73,719,585 (GRCm39)	S538I	probably damaging	Het
Socs2	G	T	10: 95,248,713 (GRCm39)	C133*	probably null	Het
Srebf2	G	A	15: 82,076,423 (GRCm39)	R691H	probably benign	Het
Tlr11	C	A	14: 50,598,557 (GRCm39)	P181Q	probably damaging	Het
Tlr7	T	A	X: 166,089,203 (GRCm39)	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,240,336 (GRCm39)	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,675,631 (GRCm39)	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,803,797 (GRCm39)	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,434,153 (GRCm39)	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,334,937 (GRCm39)	I241N	possibly damaging	Het
Wdfy3	T	C	5: 102,083,863 (GRCm39)	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,308,565 (GRCm39)	S231C	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
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
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

Posted On

2016-08-02