Mutagenetix > Incidental Mutations

Incidental Mutation 'R5813:Slc22a30'

447658

Institutional Source

Beutler Lab

Gene Symbol

Slc22a30

Ensembl Gene

ENSMUSG00000052562

Gene Name

solute carrier family 22, member 30

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5813 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

8335371-8405111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8404581 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 109 (T109A)

Ref Sequence

ENSEMBL: ENSMUSP00000093988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064507] [ENSMUST00000096269] [ENSMUST00000120540]

Predicted Effect

probably benign
Transcript: ENSMUST00000064507
AA Change: T109A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: T109A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	439	3.1e-21	PFAM
Pfam:MFS_1	127	433	8.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096269
AA Change: T109A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: T109A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	527	9.6e-27	PFAM
Pfam:MFS_1	140	376	1.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120540
AA Change: T109A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: T109A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	435	1.3e-20	PFAM
Pfam:MFS_1	127	435	1.5e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	A	G	3: 89,345,828	Y230H	probably benign	Het
Ano7	G	T	1: 93,384,919		probably null	Het
Arap2	T	C	5: 62,677,163	Y792C	probably damaging	Het
Art3	C	A	5: 92,412,241		probably benign	Het
Atad2	C	T	15: 58,099,854	G1085D	probably benign	Het
Birc6	C	A	17: 74,646,502	A3253E	probably damaging	Het
C530008M17Rik	A	G	5: 76,858,428	T879A	unknown	Het
C9	C	T	15: 6,497,126	P547L	probably benign	Het
Cecr2	T	C	6: 120,762,208	S1271P	probably damaging	Het
Ces1e	T	A	8: 93,221,677	K105*	probably null	Het
Cpsf4	A	G	5: 145,178,873	N204S	probably benign	Het
Dgkz	T	C	2: 91,939,388	D615G	possibly damaging	Het
Disp1	G	T	1: 183,088,410	N815K	probably damaging	Het
Enah	A	G	1: 181,931,185		probably benign	Het
Fcgbp	A	G	7: 28,101,494	T1322A	possibly damaging	Het
Frem1	A	G	4: 83,000,158	F516L	probably damaging	Het
Fry	G	A	5: 150,399,671	A1096T	probably damaging	Het
Fyco1	T	C	9: 123,831,348	Y190C	probably damaging	Het
Gfra1	T	C	19: 58,239,255	D417G	probably benign	Het
Gigyf2	T	C	1: 87,440,763	I1055T	probably damaging	Het
Invs	A	G	4: 48,398,146	E444G	probably damaging	Het
Itga10	A	G	3: 96,652,585	T519A	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kdm2b	A	G	5: 122,871,868	S727P	probably benign	Het
Kidins220	A	T	12: 25,057,140	K1531*	probably null	Het
Ksr1	C	T	11: 79,038,198	V266M	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lipi	T	C	16: 75,573,910	R140G	possibly damaging	Het
Lrrc32	T	C	7: 98,498,411	S133P	probably damaging	Het
Map3k7	T	A	4: 31,964,318	I19N	probably damaging	Het
Marf1	A	G	16: 14,152,585	V90A	probably benign	Het
Mark3	T	C	12: 111,655,443	L673P	probably damaging	Het
Meis1	T	C	11: 19,016,229	H48R	probably benign	Het
Mettl26	G	A	17: 25,876,021	V87M	probably damaging	Het
Mknk2	T	C	10: 80,675,862	R5G	probably benign	Het
Mterf1b	T	C	5: 4,196,956	V199A	possibly damaging	Het
Ncs1	T	A	2: 31,280,654		probably null	Het
Nek10	T	C	14: 14,986,704	V1014A	probably benign	Het
Notch2	A	G	3: 98,135,428	N1370D	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,943,418		probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1032	T	C	2: 86,008,292	I172T	probably damaging	Het
Olfr922	T	A	9: 38,815,656	M51K	probably benign	Het
Olfr952	A	G	9: 39,426,736	C112R	probably damaging	Het
Opn5	C	G	17: 42,593,006	R146T	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pcyox1l	C	T	18: 61,699,288		probably null	Het
Plxnb2	T	C	15: 89,160,759	T1128A	possibly damaging	Het
Prex1	T	C	2: 166,583,207	T960A	probably benign	Het
Prkaa2	A	C	4: 105,036,094	*553G	probably null	Het
Rasgrp4	A	G	7: 29,145,214	D297G	probably damaging	Het
Sdf4	G	A	4: 155,999,399	V109I	probably benign	Het
Serpinb3d	T	C	1: 107,079,297	K227R	probably benign	Het
Sgsm1	A	T	5: 113,250,956	I750N	probably damaging	Het
Shtn1	T	A	19: 59,032,241	K183M	probably damaging	Het
Slco1c1	A	G	6: 141,542,203	D99G	probably damaging	Het
Soga3	G	T	10: 29,150,244	V441F	probably damaging	Het
Tcf25	T	A	8: 123,395,615		probably null	Het
Tex10	A	G	4: 48,452,928	V677A	probably benign	Het
Tmem131l	A	G	3: 83,940,572	S329P	probably benign	Het
Trappc10	T	A	10: 78,222,739	N136I	probably damaging	Het
Trpt1	T	C	19: 6,998,538	F173L	probably benign	Het
Ttc37	A	G	13: 76,155,733	T1257A	probably benign	Het
Ube4b	G	A	4: 149,337,468	R955C	probably damaging	Het
Usp34	C	A	11: 23,421,340	P1840T	probably benign	Het
Vmn1r27	A	T	6: 58,216,000	N6K	possibly damaging	Het
Wdr25	T	C	12: 109,027,421	V521A	possibly damaging	Het
Wdr64	G	A	1: 175,812,057	E1031K	possibly damaging	Het
Wnt10a	A	G	1: 74,800,596	N147S	probably damaging	Het
Zbed5	T	C	5: 129,902,218	I336T	possibly damaging	Het
Zfp758	T	A	17: 22,375,815	H427Q	probably damaging	Het
Zfp961	C	A	8: 71,968,226	H194Q	probably damaging	Het

Other mutations in Slc22a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Slc22a30	APN	19	8335788	missense	probably benign	0.29
IGL01894:Slc22a30	APN	19	8386657	missense	probably benign	0.28
IGL02795:Slc22a30	APN	19	8400895	missense	probably damaging	1.00
IGL02798:Slc22a30	APN	19	8370085	missense	probably damaging	0.96
IGL03267:Slc22a30	APN	19	8337958	missense	probably benign	0.00
R0089:Slc22a30	UTSW	19	8370197	missense	probably benign	0.03
R0243:Slc22a30	UTSW	19	8345357	missense	probably benign	0.01
R1033:Slc22a30	UTSW	19	8335801	nonsense	probably null
R1781:Slc22a30	UTSW	19	8335772	missense	probably damaging	1.00
R2098:Slc22a30	UTSW	19	8400811	missense	probably damaging	1.00
R3874:Slc22a30	UTSW	19	8336849	missense	probably benign	0.31
R4091:Slc22a30	UTSW	19	8404545	missense	probably damaging	1.00
R4799:Slc22a30	UTSW	19	8344404	missense	probably benign
R5108:Slc22a30	UTSW	19	8386426	missense	probably damaging	1.00
R5191:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5192:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5193:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5195:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5253:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5254:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5255:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5256:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5377:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5378:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5400:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5401:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5481:Slc22a30	UTSW	19	8336837	missense	probably benign	0.01
R5644:Slc22a30	UTSW	19	8404616	missense	possibly damaging	0.72
R5679:Slc22a30	UTSW	19	8335771	missense	possibly damaging	0.90
R5699:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5704:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5706:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5767:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5770:Slc22a30	UTSW	19	8386527	missense	probably damaging	0.99
R5784:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5793:Slc22a30	UTSW	19	8336819	missense	possibly damaging	0.95
R6101:Slc22a30	UTSW	19	8337868	splice site	probably null
R6105:Slc22a30	UTSW	19	8337868	splice site	probably null
R6327:Slc22a30	UTSW	19	8335722	utr 3 prime	probably benign
R6958:Slc22a30	UTSW	19	8386701	missense	probably damaging	0.98
R7162:Slc22a30	UTSW	19	8336717	splice site	probably null
R7375:Slc22a30	UTSW	19	8404691	missense	probably damaging	1.00
R7572:Slc22a30	UTSW	19	8335708	missense	unknown
R7755:Slc22a30	UTSW	19	8336769	missense	probably damaging	1.00
Z1088:Slc22a30	UTSW	19	8335775	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGAATAACACTGTCTTGTC -3'
(R):5'- CCATCCTTGACAATGACACTGC -3'

Sequencing Primer
(F):5'- CTTATTGCCATGACAAGGGACCTG -3'
(R):5'- ACTGCCTCTGATAATGGCAG -3'

Posted On

2016-12-15