Mutagenetix > Incidental Mutation

Incidental Mutation 'R5632:Slc23a4'

439914

Institutional Source

Beutler Lab

Gene Symbol

Slc23a4

Ensembl Gene

ENSMUSG00000029847

Gene Name

solute carrier family 23 member 4

Synonyms

LOC243753, 2010107G12Rik

MMRRC Submission

043283-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5632 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

34922213-34965339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34933957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 49 (M49V)

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: M49V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000041436
Gene: ENSMUSG00000029847
AA Change: M49V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144079
AA Change: M49V

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

SMART Domains

Protein: ENSMUSP00000122803
Gene: ENSMUSG00000029847
AA Change: M49V

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: M182V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144387
Gene: ENSMUSG00000029847
AA Change: M182V

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,664,076 (GRCm39)	T7A	probably benign	Het
Adam33	T	G	2: 130,895,362 (GRCm39)	D619A	probably damaging	Het
Ajm1	T	C	2: 25,469,276 (GRCm39)	T212A	probably benign	Het
Aldh3b3	C	T	19: 4,018,522 (GRCm39)		probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Arhgef40	C	A	14: 52,231,795 (GRCm39)	T727K	probably damaging	Het
Arrdc1	T	C	2: 24,817,840 (GRCm39)	T43A	probably benign	Het
Bcl2l15	A	G	3: 103,743,378 (GRCm39)	N93S	probably benign	Het
Cd5l	G	T	3: 87,273,414 (GRCm39)	E128*	probably null	Het
Cep97	T	C	16: 55,735,946 (GRCm39)	D284G	probably benign	Het
Ckmt1	T	A	2: 121,191,073 (GRCm39)	S162T	probably damaging	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cpeb4	A	G	11: 31,839,877 (GRCm39)	D53G	probably damaging	Het
Crocc2	T	A	1: 93,145,575 (GRCm39)	S1485R	probably damaging	Het
Dcaf5	G	A	12: 80,444,526 (GRCm39)	A189V	probably damaging	Het
Duox2	C	T	2: 122,111,936 (GRCm39)	G1355S	probably damaging	Het
Fam120b	C	T	17: 15,623,344 (GRCm39)	P441S	probably benign	Het
Fbxo41	A	G	6: 85,461,486 (GRCm39)	L74P	probably damaging	Het
H2-DMa	A	G	17: 34,356,975 (GRCm39)	T158A	probably benign	Het
Hcar2	T	A	5: 124,002,532 (GRCm39)	T324S	probably benign	Het
Hif3a	T	C	7: 16,784,580 (GRCm39)	I222V	possibly damaging	Het
Ighv1-7	A	G	12: 114,502,501 (GRCm39)		probably benign	Het
Il20	T	C	1: 130,835,165 (GRCm39)	E151G	probably benign	Het
Jarid2	A	G	13: 45,049,766 (GRCm39)	E236G	probably damaging	Het
Knl1	T	C	2: 118,900,833 (GRCm39)	S845P	probably damaging	Het
Lamc2	T	C	1: 153,007,636 (GRCm39)	Y846C	probably damaging	Het
Lrp5	A	G	19: 3,672,512 (GRCm39)	V599A	probably benign	Het
Lrrc8b	T	A	5: 105,628,163 (GRCm39)	S170T	possibly damaging	Het
Mex3d	T	C	10: 80,218,428 (GRCm39)	K263R	probably damaging	Het
Mtor	A	G	4: 148,553,463 (GRCm39)	K784E	possibly damaging	Het
Naip5	C	A	13: 100,367,170 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,229,060 (GRCm39)	T609A	possibly damaging	Het
Ndufs1	C	T	1: 63,189,218 (GRCm39)	A536T	probably benign	Het
Neto1	A	G	18: 86,516,768 (GRCm39)	I362V	probably benign	Het
Nfatc3	T	C	8: 106,805,689 (GRCm39)	L178P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nsd3	C	T	8: 26,169,985 (GRCm39)	T707M	probably benign	Het
Or51f2	A	C	7: 102,527,004 (GRCm39)	S226R	probably benign	Het
Or5w1b	A	T	2: 87,475,573 (GRCm39)	V298E	probably damaging	Het
Or9g19	T	C	2: 85,600,613 (GRCm39)	V156A	probably benign	Het
Pcnx1	T	A	12: 81,964,504 (GRCm39)	S224T	probably damaging	Het
Peak1	T	C	9: 56,165,058 (GRCm39)	T957A	probably damaging	Het
Pex7	A	T	10: 19,764,483 (GRCm39)	D153E	probably damaging	Het
Plscr1	A	G	9: 92,148,477 (GRCm39)	E139G	probably damaging	Het
Psmb8	T	C	17: 34,420,214 (GRCm39)	Y269H	probably benign	Het
Rmc1	T	C	18: 12,304,640 (GRCm39)	F72L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sft2d2	T	C	1: 165,012,657 (GRCm39)	T80A	probably damaging	Het
Slc12a5	A	G	2: 164,829,141 (GRCm39)	I583M	possibly damaging	Het
Smarcb1	G	A	10: 75,740,252 (GRCm39)	Q309*	probably null	Het
Sphkap	A	T	1: 83,256,006 (GRCm39)	V294E	probably benign	Het
Stoml1	C	A	9: 58,160,653 (GRCm39)	P35Q	probably damaging	Het
Timm10b	G	C	7: 105,290,329 (GRCm39)	R42P	probably damaging	Het
Tnfrsf8	A	T	4: 145,019,203 (GRCm39)	S211T	possibly damaging	Het
Ttn	T	C	2: 76,536,164 (GRCm39)	T26738A	probably damaging	Het
Vps13d	A	T	4: 144,801,452 (GRCm39)	Y474N	probably damaging	Het
Wdr81	A	T	11: 75,336,732 (GRCm39)	F1552L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wnt7a	A	C	6: 91,371,637 (GRCm39)	Y108*	probably null	Het
Zfp512b	C	T	2: 181,227,461 (GRCm39)	R56K	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
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
R6382:Slc23a4	UTSW	6	34,933,978 (GRCm39)	missense	probably benign	0.03
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'- ACTGAGATGGCCTGCCTTTC -3'
(R):5'- TCATTCAACTCAACAGATAGAGCAG -3'

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

Posted On

2016-11-08