Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Slc23a4'

515362

Institutional Source

Beutler Lab

Gene Symbol

Slc23a4

Ensembl Gene

ENSMUSG00000029847

Gene Name

solute carrier family 23 member 4

Synonyms

LOC243753, 2010107G12Rik

MMRRC Submission

044531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34922213-34965339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34933978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 42 (M42L)

Ref Sequence

ENSEMBL: ENSMUSP00000041436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044387] [ENSMUST00000144079] [ENSMUST00000201355]

AlphaFold

A0A0J9YUX7

Predicted Effect

probably benign
Transcript: ENSMUST00000044387
AA Change: M42L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041436
Gene: ENSMUSG00000029847
AA Change: M42L

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	2	282	2.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144079
AA Change: M42L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122803
Gene: ENSMUSG00000029847
AA Change: M42L

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	2	249	2.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147169

SMART Domains

Protein: ENSMUSP00000119927
Gene: ENSMUSG00000029847

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	1	227	6.9e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201355
AA Change: M175L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144387
Gene: ENSMUSG00000029847
AA Change: M175L

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	56	491	4.7e-96	PFAM
transmembrane domain	505	524	N/A	INTRINSIC
low complexity region	548	557	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,418,850 (GRCm39)	M148K	probably benign	Het
Aldoc	T	C	11: 78,216,568 (GRCm39)	I242T	probably benign	Het
Camta2	T	C	11: 70,562,867 (GRCm39)	T927A	probably damaging	Het
Ccdc30	T	C	4: 119,261,363 (GRCm39)	R25G	possibly damaging	Het
Cdh16	T	A	8: 105,348,175 (GRCm39)	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,710,577 (GRCm39)		probably null	Het
Cnot6l	C	A	5: 96,276,858 (GRCm39)	R110L	probably damaging	Het
Col7a1	G	A	9: 108,804,461 (GRCm39)	S2264N	unknown	Het
Cspp1	A	G	1: 10,153,700 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,479,373 (GRCm39)	L213Q	probably damaging	Het
Cuta	T	C	17: 27,157,428 (GRCm39)	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,607,973 (GRCm39)	N200K	probably damaging	Het
Dag1	C	A	9: 108,085,336 (GRCm39)	A602S	possibly damaging	Het
Ftdc1	T	C	16: 58,434,273 (GRCm39)	E148G	possibly damaging	Het
Gm4707	G	A	17: 71,766,238 (GRCm39)		probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,342,724 (GRCm39)	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Hpse2	A	G	19: 43,376,641 (GRCm39)	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,827,196 (GRCm39)	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,951 (GRCm39)		probably null	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,657,672 (GRCm39)	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,348,814 (GRCm39)	Q62*	probably null	Het
Jakmip2	A	G	18: 43,704,244 (GRCm39)	S367P	possibly damaging	Het
Lrrc40	A	G	3: 157,764,333 (GRCm39)	D416G	probably damaging	Het
Mdm2	A	G	10: 117,528,626 (GRCm39)	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 74,169,375 (GRCm39)		probably null	Het
Myo1b	C	T	1: 51,813,466 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,048,859 (GRCm39)	D1799G	probably damaging	Het
Obscn	C	T	11: 58,890,239 (GRCm39)	G7431D	unknown	Het
Obscn	A	T	11: 58,933,034 (GRCm39)	C4781S	probably damaging	Het
Or2a14	T	A	6: 43,130,899 (GRCm39)	I220N	probably damaging	Het
Or7a35	C	A	10: 78,853,351 (GRCm39)	S65Y	probably damaging	Het
Pard3	T	A	8: 128,103,264 (GRCm39)	V411D	probably damaging	Het
Pfkl	T	C	10: 77,835,671 (GRCm39)	R246G	probably damaging	Het
Pgs1	T	C	11: 117,894,186 (GRCm39)	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,665,724 (GRCm39)	E15G	possibly damaging	Het
Pja2	A	G	17: 64,616,610 (GRCm39)	V95A	probably benign	Het
Ripor2	T	C	13: 24,861,828 (GRCm39)	I207T	possibly damaging	Het
Rps15	A	G	10: 80,129,820 (GRCm39)	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,051,484 (GRCm39)	E192*	probably null	Het
Snx25	T	A	8: 46,509,028 (GRCm39)	S373C	probably benign	Het
Sppl2a	A	T	2: 126,758,949 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,675 (GRCm39)	T45I	possibly damaging	Het
Tpcn2	A	G	7: 144,823,486 (GRCm39)	S256P	possibly damaging	Het
Txk	C	T	5: 72,893,823 (GRCm39)		probably benign	Het
Ubr2	C	G	17: 47,268,241 (GRCm39)	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,122,248 (GRCm39)	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,985,297 (GRCm39)	A35E	probably benign	Het
Ush2a	A	G	1: 188,546,499 (GRCm39)	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,530,345 (GRCm39)	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,664,426 (GRCm39)	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,243,813 (GRCm39)	N715D	probably benign	Het
Zfp933	T	C	4: 147,910,325 (GRCm39)	S424G	probably benign	Het

Other mutations in Slc23a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02517:Slc23a4	APN	6	34,931,917 (GRCm39)	missense	probably benign	0.05
R1501:Slc23a4	UTSW	6	34,932,057 (GRCm39)	missense	probably damaging	1.00
R1768:Slc23a4	UTSW	6	34,933,896 (GRCm39)	missense	probably damaging	1.00
R3977:Slc23a4	UTSW	6	34,930,723 (GRCm39)	missense	probably benign	0.08
R5632:Slc23a4	UTSW	6	34,933,957 (GRCm39)	missense	probably benign	0.00
R6072:Slc23a4	UTSW	6	34,925,357 (GRCm39)	missense	probably benign	0.01
R6211:Slc23a4	UTSW	6	34,933,896 (GRCm39)	missense	probably damaging	1.00
R7076:Slc23a4	UTSW	6	34,933,819 (GRCm39)	missense	probably damaging	0.98
R7143:Slc23a4	UTSW	6	34,955,848 (GRCm39)	missense	probably damaging	0.99
R7352:Slc23a4	UTSW	6	34,925,214 (GRCm39)	missense	possibly damaging	0.94
R8060:Slc23a4	UTSW	6	34,925,336 (GRCm39)	missense	probably damaging	0.98
R8405:Slc23a4	UTSW	6	34,923,145 (GRCm39)	missense	probably benign	0.09
R9191:Slc23a4	UTSW	6	34,925,396 (GRCm39)	missense
R9282:Slc23a4	UTSW	6	34,955,861 (GRCm39)	missense	probably damaging	1.00
R9710:Slc23a4	UTSW	6	34,923,235 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGATGGCCTGCCTTTCTC -3'
(R):5'- TCATTCAACTCAACAGATAGAGCAG -3'

Sequencing Primer
(F):5'- CCTTTCTCGGAGAATACTTACAGGG -3'
(R):5'- ACACGCTAGGAATGGCTTTAC -3'

Posted On

2018-05-04