Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Slc22a30'

195342

Institutional Source

Beutler Lab

Gene Symbol

Slc22a30

Ensembl Gene

ENSMUSG00000052562

Gene Name

solute carrier family 22, member 30

Synonyms

C730048C13Rik

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8312735-8382475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8313136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 550 (T550S)

Ref Sequence

ENSEMBL: ENSMUSP00000093988 (fasta)

Gene Model

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

AlphaFold

Q96LX3

Predicted Effect

silent
Transcript: ENSMUST00000064507

SMART Domains

Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562

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 damaging
Transcript: ENSMUST00000096269
AA Change: T550S

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

SMART Domains

Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: T550S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhdc1	A	T	3: 84,356,111 (GRCm39)	D444E	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mc4r	A	T	18: 66,992,918 (GRCm39)	V65E	probably damaging	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pde6c	T	C	19: 38,140,146 (GRCm39)	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Srsf9	C	A	5: 115,465,481 (GRCm39)	Y9*	probably null	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	Het

Other mutations in Slc22a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Slc22a30	APN	19	8,313,152 (GRCm39)	missense	probably benign	0.29
IGL01894:Slc22a30	APN	19	8,364,021 (GRCm39)	missense	probably benign	0.28
IGL02795:Slc22a30	APN	19	8,378,259 (GRCm39)	missense	probably damaging	1.00
IGL02798:Slc22a30	APN	19	8,347,449 (GRCm39)	missense	probably damaging	0.96
IGL03267:Slc22a30	APN	19	8,315,322 (GRCm39)	missense	probably benign	0.00
R0089:Slc22a30	UTSW	19	8,347,561 (GRCm39)	missense	probably benign	0.03
R0243:Slc22a30	UTSW	19	8,322,721 (GRCm39)	missense	probably benign	0.01
R1033:Slc22a30	UTSW	19	8,313,165 (GRCm39)	nonsense	probably null
R2098:Slc22a30	UTSW	19	8,378,175 (GRCm39)	missense	probably damaging	1.00
R3874:Slc22a30	UTSW	19	8,314,213 (GRCm39)	missense	probably benign	0.31
R4091:Slc22a30	UTSW	19	8,381,909 (GRCm39)	missense	probably damaging	1.00
R4799:Slc22a30	UTSW	19	8,321,768 (GRCm39)	missense	probably benign
R5108:Slc22a30	UTSW	19	8,363,790 (GRCm39)	missense	probably damaging	1.00
R5191:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5192:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5193:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5195:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5253:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5254:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5255:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5256:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5377:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5378:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5400:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5401:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5481:Slc22a30	UTSW	19	8,314,201 (GRCm39)	missense	probably benign	0.01
R5644:Slc22a30	UTSW	19	8,381,980 (GRCm39)	missense	possibly damaging	0.72
R5679:Slc22a30	UTSW	19	8,313,135 (GRCm39)	missense	possibly damaging	0.90
R5699:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5704:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5706:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5767:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5770:Slc22a30	UTSW	19	8,363,891 (GRCm39)	missense	probably damaging	0.99
R5784:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5793:Slc22a30	UTSW	19	8,314,183 (GRCm39)	missense	possibly damaging	0.95
R5813:Slc22a30	UTSW	19	8,381,945 (GRCm39)	missense	probably benign	0.07
R6101:Slc22a30	UTSW	19	8,315,232 (GRCm39)	splice site	probably null
R6105:Slc22a30	UTSW	19	8,315,232 (GRCm39)	splice site	probably null
R6327:Slc22a30	UTSW	19	8,313,086 (GRCm39)	utr 3 prime	probably benign
R6958:Slc22a30	UTSW	19	8,364,065 (GRCm39)	missense	probably damaging	0.98
R7162:Slc22a30	UTSW	19	8,314,081 (GRCm39)	splice site	probably null
R7375:Slc22a30	UTSW	19	8,382,055 (GRCm39)	missense	probably damaging	1.00
R7572:Slc22a30	UTSW	19	8,313,072 (GRCm39)	missense	unknown
R7755:Slc22a30	UTSW	19	8,314,133 (GRCm39)	missense	probably damaging	1.00
R8114:Slc22a30	UTSW	19	8,381,904 (GRCm39)	nonsense	probably null
R8248:Slc22a30	UTSW	19	8,347,563 (GRCm39)	missense	probably benign	0.12
R8677:Slc22a30	UTSW	19	8,364,035 (GRCm39)	missense	probably benign	0.21
R8854:Slc22a30	UTSW	19	8,363,754 (GRCm39)	critical splice donor site	probably null
R8900:Slc22a30	UTSW	19	8,315,340 (GRCm39)	missense	probably damaging	1.00
R9185:Slc22a30	UTSW	19	8,321,917 (GRCm39)	missense	probably benign	0.03
R9296:Slc22a30	UTSW	19	8,364,119 (GRCm39)	missense	probably benign	0.06
R9463:Slc22a30	UTSW	19	8,378,259 (GRCm39)	missense	probably damaging	1.00
R9773:Slc22a30	UTSW	19	8,321,754 (GRCm39)	missense	probably benign	0.01
Z1088:Slc22a30	UTSW	19	8,313,139 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAAACTGACGCCAGTGATATGG -3'
(R):5'- AATCCCCTGGAACCAACGTGTAAAG -3'

Sequencing Primer
(F):5'- ATGTCAAGCAGGATTTCTTTCC -3'
(R):5'- GGAACCAACGTGTAAAGTACTAAATC -3'

Posted On

2014-05-23