Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Slc23a4'

619640

Institutional Source

Beutler Lab

Gene Symbol

Slc23a4

Ensembl Gene

ENSMUSG00000029847

Gene Name

solute carrier family 23 member 4

Synonyms

LOC243753, 2010107G12Rik

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34922213-34965339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34925336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 498 (T498A)

Ref Sequence

ENSEMBL: ENSMUSP00000144387 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUX7

Predicted Effect

probably benign
Transcript: ENSMUST00000044387

SMART Domains

Protein: ENSMUSP00000041436
Gene: ENSMUSG00000029847

Domain	Start	End	E-Value	Type
Pfam:Xan_ur_permease	2	282	2.2e-52	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 damaging
Transcript: ENSMUST00000201355
AA Change: T498A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144387
Gene: ENSMUSG00000029847
AA Change: T498A

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,426,529 (GRCm39)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Cts3	T	A	13: 61,714,580 (GRCm39)	I242F	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or4p7	A	G	2: 88,221,848 (GRCm39)	T86A	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Rnpep	T	C	1: 135,194,658 (GRCm39)	Y459C	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	possibly damaging	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
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
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'- GATGTCCACAAGCCCAGCTATG -3'
(R):5'- AGCCAGCCTTATGCACATGC -3'

Sequencing Primer
(F):5'- TGTTGTCCAAGACGAAGCC -3'
(R):5'- TATGCACATGCGTAAAGGTGTC -3'

Posted On

2020-01-23