Mutagenetix > Incidental Mutation

Incidental Mutation 'R9390:Slc26a10'

710551

Institutional Source

Beutler Lab

Gene Symbol

Slc26a10

Ensembl Gene

ENSMUSG00000040441

Gene Name

solute carrier family 26, member 10

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127007262-127016514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127009239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 641 (E641K)

Ref Sequence

ENSEMBL: ENSMUSP00000092904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006914] [ENSMUST00000095270] [ENSMUST00000217678] [ENSMUST00000222911]

AlphaFold

Q5EBI0

Predicted Effect

probably benign
Transcript: ENSMUST00000006914

SMART Domains

Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
low complexity region	191	202	N/A	INTRINSIC
Pfam:Glycos_transf_2	280	450	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095270
AA Change: E641K

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

SMART Domains

Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441
AA Change: E641K

Domain	Start	End	E-Value	Type
low complexity region	51	78	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
Pfam:Sulfate_transp	105	497	5.5e-103	PFAM
low complexity region	512	522	N/A	INTRINSIC
Pfam:STAS	549	664	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217678

Predicted Effect

probably benign
Transcript: ENSMUST00000222911
AA Change: E633K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,853,096 (GRCm39)	S13R	probably benign	Het
Amn1	A	T	6: 149,084,983 (GRCm39)	D32E	probably damaging	Het
Asph	T	C	4: 9,635,927 (GRCm39)	D108G	probably damaging	Het
C1rb	T	C	6: 124,557,336 (GRCm39)	L491P	probably damaging	Het
Cep120	G	A	18: 53,839,984 (GRCm39)	R759*	probably null	Het
Chmp6	C	T	11: 119,806,288 (GRCm39)	T38M	possibly damaging	Het
Comtd1	A	G	14: 21,898,867 (GRCm39)	F25S	possibly damaging	Het
Dthd1	G	A	5: 62,975,904 (GRCm39)	G193R	possibly damaging	Het
Dyrk1a	T	A	16: 94,474,330 (GRCm39)	S362R	probably damaging	Het
Ecm2	A	G	13: 49,683,792 (GRCm39)	D590G	probably benign	Het
Exd1	A	T	2: 119,354,180 (GRCm39)	W293R	probably damaging	Het
Fam110a	C	T	2: 151,812,116 (GRCm39)	R218Q	probably benign	Het
Fga	A	T	3: 82,940,610 (GRCm39)	N755Y	probably damaging	Het
Fstl4	C	A	11: 52,891,102 (GRCm39)	T80K	probably benign	Het
Gbp5	A	G	3: 142,208,783 (GRCm39)	K109E	probably benign	Het
Gucy2g	A	G	19: 55,190,607 (GRCm39)	V1009A	probably null	Het
Herc6	C	T	6: 57,602,955 (GRCm39)	Q545*	probably null	Het
Hpd	T	A	5: 123,318,794 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp4b	T	C	8: 82,497,522 (GRCm39)	V114A	probably damaging	Het
Ints14	A	G	9: 64,891,314 (GRCm39)	T432A	probably benign	Het
Isoc1	G	A	18: 58,804,350 (GRCm39)	R126H	probably damaging	Het
Klb	G	T	5: 65,533,044 (GRCm39)	R451L	possibly damaging	Het
Lrtm2	C	T	6: 119,297,948 (GRCm39)	C31Y	probably benign	Het
Mga	C	T	2: 119,794,332 (GRCm39)	S2672F	probably damaging	Het
Mkrn3	T	C	7: 62,069,288 (GRCm39)	I168V	probably benign	Het
Mlph	C	T	1: 90,867,088 (GRCm39)	T370I	probably benign	Het
Naaladl1	A	T	19: 6,162,725 (GRCm39)	I478F	probably damaging	Het
Neb	A	T	2: 52,065,157 (GRCm39)	H6251Q	probably benign	Het
Nom1	C	T	5: 29,639,766 (GRCm39)	R31C	probably benign	Het
Nup153	A	C	13: 46,840,642 (GRCm39)	F989V	probably damaging	Het
Nup188	T	C	2: 30,220,777 (GRCm39)		probably null	Het
Or4c12	T	C	2: 89,773,569 (GRCm39)	K297E	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c210	A	G	10: 129,495,938 (GRCm39)	T88A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,057,983 (GRCm39)	T565A	probably benign	Het
Pcdhb4	T	C	18: 37,442,781 (GRCm39)	V697A	possibly damaging	Het
Pds5a	G	T	5: 65,823,600 (GRCm39)	Q64K	probably benign	Het
Pmpcb	T	C	5: 21,953,810 (GRCm39)	F353L	probably damaging	Het
Pus10	G	A	11: 23,656,937 (GRCm39)	C221Y	probably damaging	Het
Qrfp	A	G	2: 31,698,749 (GRCm39)	V61A	possibly damaging	Het
Runx1t1	A	G	4: 13,865,932 (GRCm39)	I393M	probably benign	Het
Sh2d5	T	G	4: 137,985,481 (GRCm39)	S310A	probably benign	Het
Shisa9	A	G	16: 12,085,408 (GRCm39)	E339G	possibly damaging	Het
Slc5a6	A	G	5: 31,197,803 (GRCm39)	V302A	possibly damaging	Het
Tdrd7	T	A	4: 46,005,416 (GRCm39)	D407E	probably damaging	Het
Trp53	A	T	11: 69,478,394 (GRCm39)	Q101L	probably benign	Het
Tsc2	T	A	17: 24,823,824 (GRCm39)	N994Y	probably damaging	Het
Ttc16	T	G	2: 32,657,195 (GRCm39)	K577Q	possibly damaging	Het
Vmn1r195	A	G	13: 22,462,535 (GRCm39)	I2V	probably benign	Het
Vmn2r83	G	T	10: 79,317,322 (GRCm39)	E522*	probably null	Het
Wdr48	T	A	9: 119,746,245 (GRCm39)	F450L	probably benign	Het
Wnt9a	G	A	11: 59,218,592 (GRCm39)	E100K	possibly damaging	Het
Zfp729b	A	T	13: 67,739,182 (GRCm39)	S1028T	probably benign	Het
Zfp729b	C	T	13: 67,742,014 (GRCm39)	V84I	possibly damaging	Het

Other mutations in Slc26a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Slc26a10	APN	10	127,010,046 (GRCm39)	splice site	probably benign
IGL01657:Slc26a10	APN	10	127,010,903 (GRCm39)	missense	probably damaging	1.00
R1202:Slc26a10	UTSW	10	127,009,217 (GRCm39)	missense	probably damaging	0.99
R1844:Slc26a10	UTSW	10	127,014,279 (GRCm39)	missense	probably damaging	0.97
R2423:Slc26a10	UTSW	10	127,015,606 (GRCm39)	critical splice acceptor site	probably null
R4031:Slc26a10	UTSW	10	127,013,871 (GRCm39)	missense	possibly damaging	0.57
R4779:Slc26a10	UTSW	10	127,009,224 (GRCm39)	missense	possibly damaging	0.73
R5405:Slc26a10	UTSW	10	127,010,864 (GRCm39)	missense	probably benign	0.09
R5478:Slc26a10	UTSW	10	127,009,818 (GRCm39)	missense	probably benign	0.05
R5657:Slc26a10	UTSW	10	127,010,833 (GRCm39)	intron	probably benign
R5990:Slc26a10	UTSW	10	127,014,627 (GRCm39)	missense	possibly damaging	0.81
R6681:Slc26a10	UTSW	10	127,009,530 (GRCm39)	missense	possibly damaging	0.93
R7083:Slc26a10	UTSW	10	127,013,037 (GRCm39)	missense	probably damaging	1.00
R7365:Slc26a10	UTSW	10	127,012,716 (GRCm39)	missense	possibly damaging	0.95
R7997:Slc26a10	UTSW	10	127,009,178 (GRCm39)	missense	possibly damaging	0.93
R8211:Slc26a10	UTSW	10	127,009,834 (GRCm39)	missense	probably benign	0.06
R8268:Slc26a10	UTSW	10	127,009,491 (GRCm39)	critical splice donor site	probably null
R8906:Slc26a10	UTSW	10	127,016,459 (GRCm39)	missense	probably benign	0.02
Z1177:Slc26a10	UTSW	10	127,015,527 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCCCTCCAATCTACTAGGC -3'
(R):5'- TGATTCCTGCAGCTCACCAG -3'

Sequencing Primer
(F):5'- CCAATCTACTAGGCAGCTTCTC -3'
(R):5'- ACGATGGGATCTACCTTC -3'

Posted On

2022-04-18