Mutagenetix > Incidental Mutation

Incidental Mutation 'R9371:Slc22a17'

709337

Institutional Source

Beutler Lab

Gene Symbol

Slc22a17

Ensembl Gene

ENSMUSG00000022199

Gene Name

solute carrier family 22 (organic cation transporter), member 17

Synonyms

1700094C23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55143761-55150589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55147139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 53 (V53D)

Ref Sequence

ENSEMBL: ENSMUSP00000049676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050772] [ENSMUST00000227880] [ENSMUST00000228119] [ENSMUST00000228495] [ENSMUST00000228588] [ENSMUST00000231305]

AlphaFold

Q9D9E0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050772
AA Change: V53D

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199
AA Change: V53D

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	1	370	1.8e-17	PFAM
Pfam:MFS_1	211	394	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227880

Predicted Effect

probably damaging
Transcript: ENSMUST00000228119
AA Change: V278D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228495
AA Change: V279D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000228588
AA Change: V174D

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000231305

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,663 (GRCm39)	I109T	probably damaging	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca8b	T	G	11: 109,858,498 (GRCm39)	Q568P	probably damaging	Het
Add3	A	G	19: 53,221,499 (GRCm39)	T204A	probably damaging	Het
Afg3l2	C	A	18: 67,567,262 (GRCm39)	R196L	possibly damaging	Het
Agps	T	A	2: 75,742,024 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,011,852 (GRCm39)	S852G	possibly damaging	Het
Aoc1	A	G	6: 48,883,102 (GRCm39)	D326G	probably benign	Het
Cecr2	A	G	6: 120,739,229 (GRCm39)	T1319A	probably benign	Het
Cenpo	C	T	12: 4,266,686 (GRCm39)	V141I	probably benign	Het
Clca4b	A	G	3: 144,631,845 (GRCm39)	L220S	possibly damaging	Het
Dicer1	A	G	12: 104,670,991 (GRCm39)	L1017P	probably damaging	Het
Ero1b	T	G	13: 12,589,728 (GRCm39)	C44G	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Fmo3	T	A	1: 162,796,281 (GRCm39)	E97V	probably benign	Het
Gcnt4	G	T	13: 97,083,634 (GRCm39)	R310L	possibly damaging	Het
Gm7298	A	G	6: 121,744,541 (GRCm39)	I520V	probably benign	Het
Gmpr	T	C	13: 45,699,471 (GRCm39)	L327P	probably damaging	Het
Grid2	T	A	6: 64,677,506 (GRCm39)	H108Q	unknown	Het
Hmcn2	G	T	2: 31,301,917 (GRCm39)	L2935F	probably damaging	Het
Hnf1b	T	C	11: 83,779,986 (GRCm39)	S440P	probably benign	Het
Hsph1	A	T	5: 149,543,395 (GRCm39)	Y644N	probably damaging	Het
Igf2r	A	G	17: 12,924,646 (GRCm39)	I1057T	possibly damaging	Het
Igfn1	T	C	1: 135,906,001 (GRCm39)	E269G	probably damaging	Het
Igkv14-126	A	G	6: 67,873,352 (GRCm39)	T27A	possibly damaging	Het
Inhca	A	T	9: 103,158,252 (GRCm39)	Y103N	probably benign	Het
Kcnj15	A	G	16: 95,097,556 (GRCm39)	R393G	unknown	Het
Lamb1	A	G	12: 31,348,863 (GRCm39)	T632A	probably damaging	Het
Lrrk2	T	C	15: 91,607,407 (GRCm39)	L590P	probably damaging	Het
Mrm3	A	G	11: 76,138,286 (GRCm39)	T225A	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,335 (GRCm39)	T895A	possibly damaging	Het
Myh1	G	A	11: 67,110,631 (GRCm39)		probably null	Het
Naip2	T	A	13: 100,298,354 (GRCm39)	K561*	probably null	Het
Necab2	C	T	8: 120,173,923 (GRCm39)	P44S	probably benign	Het
Nrde2	T	C	12: 100,092,477 (GRCm39)	S1126G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or14j6	A	G	17: 38,214,962 (GRCm39)	H175R	probably benign	Het
Or8c17	T	A	9: 38,179,926 (GRCm39)	V31E	possibly damaging	Het
Pecam1	T	G	11: 106,581,947 (GRCm39)	D333A	probably benign	Het
Prss27	T	C	17: 24,257,141 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 79,082,300 (GRCm39)	E100G	probably damaging	Het
Rnft2	A	G	5: 118,340,982 (GRCm39)	F299L	probably damaging	Het
Rptor	A	G	11: 119,562,152 (GRCm39)	N105S	possibly damaging	Het
S100a7l2	T	C	3: 90,997,698 (GRCm39)	T6A	unknown	Het
Scgb2b3	T	A	7: 31,059,642 (GRCm39)	H44L	probably benign	Het
Slc39a14	G	A	14: 70,547,569 (GRCm39)	T298M	probably benign	Het
Sorbs1	G	A	19: 40,315,324 (GRCm39)	T496M	probably damaging	Het
Spata31e1	G	C	13: 49,939,052 (GRCm39)	T886S	unknown	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tas1r3	T	C	4: 155,945,059 (GRCm39)	T721A	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmie	A	T	9: 110,696,651 (GRCm39)	C77S	probably damaging	Het
Tpp2	T	A	1: 43,999,369 (GRCm39)	I381K	probably damaging	Het
Ttn	G	C	2: 76,776,822 (GRCm39)	A1526G	unknown	Het
Vmn2r12	T	A	5: 109,234,452 (GRCm39)	M587L	probably benign	Het
Zeb2	G	T	2: 44,888,912 (GRCm39)	H344Q	probably damaging	Het
Zfp292	A	G	4: 34,810,800 (GRCm39)	I753T	probably damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfp677	C	T	17: 21,618,053 (GRCm39)	T370M	probably damaging	Het
Zfp947	G	A	17: 22,364,384 (GRCm39)	T430I	possibly damaging	Het

Other mutations in Slc22a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Slc22a17	APN	14	55,144,718 (GRCm39)	missense	probably damaging	1.00
IGL02216:Slc22a17	APN	14	55,145,433 (GRCm39)	makesense	probably null
IGL02588:Slc22a17	APN	14	55,145,451 (GRCm39)	missense	probably damaging	1.00
R1576:Slc22a17	UTSW	14	55,145,447 (GRCm39)	missense	probably damaging	1.00
R1976:Slc22a17	UTSW	14	55,145,957 (GRCm39)	critical splice donor site	probably null
R2027:Slc22a17	UTSW	14	55,145,543 (GRCm39)	missense	probably damaging	1.00
R2165:Slc22a17	UTSW	14	55,146,282 (GRCm39)	nonsense	probably null
R3547:Slc22a17	UTSW	14	55,144,694 (GRCm39)	missense	probably damaging	1.00
R5175:Slc22a17	UTSW	14	55,144,748 (GRCm39)	missense	probably damaging	1.00
R5609:Slc22a17	UTSW	14	55,146,427 (GRCm39)	missense	probably damaging	1.00
R7456:Slc22a17	UTSW	14	55,149,716 (GRCm39)	missense	probably benign	0.05
R7538:Slc22a17	UTSW	14	55,149,575 (GRCm39)	missense	probably benign	0.00
R8068:Slc22a17	UTSW	14	55,146,365 (GRCm39)	missense	probably benign	0.01
R8351:Slc22a17	UTSW	14	55,146,051 (GRCm39)	missense	probably benign	0.00
R8852:Slc22a17	UTSW	14	55,146,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGTGAGCAGTAGGACC -3'
(R):5'- ATACATCAGCTTTGAAGTAGGCAG -3'

Sequencing Primer
(F):5'- AGTAGGACCCCCTGCCTAGAC -3'
(R):5'- CTTTGAAGTAGGCAGCTAGGC -3'

Posted On

2022-04-18