Mutagenetix > Incidental Mutation

Incidental Mutation 'R8063:Slc17a1'

619866

Institutional Source

Beutler Lab

Gene Symbol

Slc17a1

Ensembl Gene

ENSMUSG00000021335

Gene Name

solute carrier family 17 (sodium phosphate), member 1

Synonyms

Npt1, NAPI-1

MMRRC Submission

067499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24051733-24079713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24059524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 85 (V85A)

Ref Sequence

ENSEMBL: ENSMUSP00000006785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006785] [ENSMUST00000110413] [ENSMUST00000130211]

AlphaFold

Q61983

Predicted Effect

probably benign
Transcript: ENSMUST00000006785
AA Change: V85A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335
AA Change: V85A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	412	2.7e-48	PFAM
transmembrane domain	430	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110413
AA Change: V85A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335
AA Change: V85A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	412	3.1e-48	PFAM
transmembrane domain	430	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130211

SMART Domains

Protein: ENSMUSP00000120824
Gene: ENSMUSG00000021335

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,862,190 (GRCm39)	I248N	possibly damaging	Het
Agk	T	A	6: 40,306,490 (GRCm39)	C20S	possibly damaging	Het
Alpk2	G	A	18: 65,483,417 (GRCm39)	S197L	probably benign	Het
Armc10	T	C	5: 21,853,768 (GRCm39)		probably null	Het
Asxl2	A	G	12: 3,550,768 (GRCm39)	T837A	probably benign	Het
Atp12a	A	G	14: 56,603,545 (GRCm39)	E50G	probably damaging	Het
Bend5	G	T	4: 111,317,031 (GRCm39)	C398F	probably damaging	Het
Bicra	A	G	7: 15,712,969 (GRCm39)	V1026A	probably benign	Het
Canx	A	T	11: 50,199,173 (GRCm39)	Y165*	probably null	Het
Casp14	A	G	10: 78,549,865 (GRCm39)	F210L	probably damaging	Het
Cep70	T	A	9: 99,178,175 (GRCm39)	D458E	probably benign	Het
Cisd3	T	C	11: 97,576,710 (GRCm39)	V12A	probably benign	Het
Cnot4	A	T	6: 35,045,578 (GRCm39)	M211K	probably damaging	Het
Cyp4f18	A	G	8: 72,752,075 (GRCm39)	L197P	probably damaging	Het
Dnah5	T	A	15: 28,230,729 (GRCm39)	I209N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Edem2	A	T	2: 155,544,376 (GRCm39)	M458K	probably benign	Het
Eif2ak4	G	A	2: 118,241,382 (GRCm39)	E178K	possibly damaging	Het
Fars2	G	A	13: 36,388,880 (GRCm39)	W123*	probably null	Het
Ighv1-20	T	C	12: 114,687,405 (GRCm39)	Y113C	probably damaging	Het
Il18r1	T	A	1: 40,526,198 (GRCm39)	I248N	probably benign	Het
Impg2	T	A	16: 56,081,819 (GRCm39)		probably benign	Het
Kcnh2	T	C	5: 24,526,670 (GRCm39)	E1042G	probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Lasp1	T	C	11: 97,724,957 (GRCm39)	Y188H	probably benign	Het
Lrrc37	T	C	11: 103,433,087 (GRCm39)	T3361A	unknown	Het
Lrrc52	A	G	1: 167,294,090 (GRCm39)	I65T	probably damaging	Het
Megf9	A	G	4: 70,406,495 (GRCm39)	C224R	probably damaging	Het
Ms4a10	T	C	19: 10,942,136 (GRCm39)	T162A	probably benign	Het
Mstn	T	A	1: 53,105,607 (GRCm39)	F316L	probably benign	Het
Ndufs8	T	C	19: 3,961,019 (GRCm39)	Y86C	probably damaging	Het
Or10d4b	A	T	9: 39,534,823 (GRCm39)	I133F	probably damaging	Het
Pappa2	C	T	1: 158,764,126 (GRCm39)	D462N	possibly damaging	Het
Rad51d	A	G	11: 82,780,597 (GRCm39)	S62P	probably benign	Het
Ralgapa2	A	G	2: 146,285,775 (GRCm39)	Y388H	probably damaging	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Sctr	T	C	1: 119,991,005 (GRCm39)	V446A	probably benign	Het
Sin3b	G	A	8: 73,452,169 (GRCm39)	D71N	probably damaging	Het
Sirt5	A	T	13: 43,524,323 (GRCm39)	T32S	probably benign	Het
Snx1	C	T	9: 66,004,676 (GRCm39)		probably benign	Het
Sorcs1	T	A	19: 50,132,415 (GRCm39)	D1181V	unknown	Het
Tcof1	A	G	18: 60,971,834 (GRCm39)	S158P	probably damaging	Het
Tet3	T	C	6: 83,379,723 (GRCm39)	D815G	probably damaging	Het
Tnfsf11	A	T	14: 78,516,098 (GRCm39)	I290N	probably damaging	Het
Uba6	A	T	5: 86,300,544 (GRCm39)	N225K	probably benign	Het
Usp30	A	G	5: 114,238,524 (GRCm39)	T11A	probably benign	Het
Vmn1r5	T	G	6: 56,962,583 (GRCm39)	M86R	probably damaging	Het
Vmn2r26	T	A	6: 124,001,914 (GRCm39)	H66Q	probably benign	Het
Vps13d	T	C	4: 144,841,327 (GRCm39)	E2647G		Het
Wdr5b	T	A	16: 35,862,158 (GRCm39)	D92E	possibly damaging	Het
Zfp960	C	A	17: 17,308,623 (GRCm39)	R446S	probably benign	Het
Zscan20	C	T	4: 128,480,028 (GRCm39)	S821N	probably benign	Het

Other mutations in Slc17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Slc17a1	APN	13	24,062,437 (GRCm39)	unclassified	probably benign
IGL01453:Slc17a1	APN	13	24,058,714 (GRCm39)	missense	probably damaging	0.99
IGL01560:Slc17a1	APN	13	24,058,612 (GRCm39)	missense	probably damaging	0.99
IGL01910:Slc17a1	APN	13	24,062,440 (GRCm39)	unclassified	probably benign
R1077:Slc17a1	UTSW	13	24,062,433 (GRCm39)	unclassified	probably benign
R1939:Slc17a1	UTSW	13	24,059,864 (GRCm39)	missense	probably benign	0.05
R2016:Slc17a1	UTSW	13	24,062,522 (GRCm39)	missense	probably benign	0.03
R2134:Slc17a1	UTSW	13	24,059,658 (GRCm39)	nonsense	probably null
R3001:Slc17a1	UTSW	13	24,062,564 (GRCm39)	critical splice donor site	probably null
R3002:Slc17a1	UTSW	13	24,062,564 (GRCm39)	critical splice donor site	probably null
R4559:Slc17a1	UTSW	13	24,062,695 (GRCm39)	nonsense	probably null
R4580:Slc17a1	UTSW	13	24,071,960 (GRCm39)	missense	probably damaging	1.00
R4658:Slc17a1	UTSW	13	24,062,543 (GRCm39)	missense	probably benign
R4696:Slc17a1	UTSW	13	24,064,700 (GRCm39)	missense	probably damaging	1.00
R4716:Slc17a1	UTSW	13	24,064,576 (GRCm39)	missense	probably benign	0.05
R4845:Slc17a1	UTSW	13	24,060,601 (GRCm39)	missense	probably damaging	1.00
R4878:Slc17a1	UTSW	13	24,064,637 (GRCm39)	missense	probably damaging	1.00
R5517:Slc17a1	UTSW	13	24,056,575 (GRCm39)	utr 5 prime	probably benign
R6020:Slc17a1	UTSW	13	24,059,593 (GRCm39)	missense	possibly damaging	0.70
R7403:Slc17a1	UTSW	13	24,058,690 (GRCm39)	missense	probably benign
R7440:Slc17a1	UTSW	13	24,062,466 (GRCm39)	missense	possibly damaging	0.62
R7747:Slc17a1	UTSW	13	24,072,035 (GRCm39)	missense	probably benign	0.10
R8323:Slc17a1	UTSW	13	24,071,982 (GRCm39)	missense	probably damaging	0.99
R8880:Slc17a1	UTSW	13	24,062,732 (GRCm39)	missense	probably benign	0.04
R9205:Slc17a1	UTSW	13	24,062,794 (GRCm39)	missense	probably benign	0.16
R9243:Slc17a1	UTSW	13	24,064,432 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGTGGGAACTCCTTTACCC -3'
(R):5'- TCCCTGAAATGAAATGATGAGGAC -3'

Sequencing Primer
(F):5'- GAACTCCTTTACCCAGACTGAGTAGG -3'
(R):5'- TTAACCATGCCCTAATACCTGGG -3'

Posted On

2020-01-23