Mutagenetix > Incidental Mutation

Incidental Mutation 'R4096:Slc10a4-ps'

317126

Institutional Source

Beutler Lab

Gene Symbol

Slc10a4-ps

Ensembl Gene

ENSMUSG00000060204

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), pseudogene

Synonyms

Slc10a4l, Gm5868

MMRRC Submission

041629-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R4096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72738981-72744893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72743709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 3 (L3P)

Ref Sequence

ENSEMBL: ENSMUSP00000031124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031124]

AlphaFold

Q8BJG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031124
AA Change: L3P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031124
Gene: ENSMUSG00000060204
AA Change: L3P

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC

Meta Mutation Damage Score

0.9423

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,008 (GRCm39)	D255G	possibly damaging	Het
4930407I10Rik	G	A	15: 81,946,406 (GRCm39)	G101D	probably benign	Het
Angpt2	G	A	8: 18,748,111 (GRCm39)	A383V	probably damaging	Het
Cemip2	G	T	19: 21,770,016 (GRCm39)	M1I	probably null	Het
Ctns	A	G	11: 73,077,212 (GRCm39)	M252T	probably benign	Het
Dmxl1	T	A	18: 50,094,264 (GRCm39)	H2913Q	probably damaging	Het
Enox1	C	T	14: 77,815,160 (GRCm39)	T106M	probably damaging	Het
Ext1	A	T	15: 52,936,753 (GRCm39)	V664E	probably damaging	Het
Fat4	A	T	3: 38,942,024 (GRCm39)	T306S	possibly damaging	Het
Fbxl5	T	C	5: 43,915,583 (GRCm39)	I610V	probably benign	Het
Glb1l	T	A	1: 75,186,084 (GRCm39)	M1L	probably benign	Het
Hmcn1	T	C	1: 150,534,259 (GRCm39)	K3005R	probably benign	Het
Homer2	A	G	7: 81,261,052 (GRCm39)		probably null	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Kcnq3	C	A	15: 66,157,664 (GRCm39)		probably null	Het
Mad1l1	C	T	5: 140,293,428 (GRCm39)	R130H	probably benign	Het
Man2b1	A	G	8: 85,811,366 (GRCm39)	E120G	probably damaging	Het
Mtus1	T	C	8: 41,537,284 (GRCm39)	D144G	probably damaging	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or5m10	T	C	2: 85,717,767 (GRCm39)	S208P	probably damaging	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Rrp12	A	G	19: 41,875,587 (GRCm39)	I252T	probably benign	Het
Sbno1	A	T	5: 124,529,983 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc28a2b	A	G	2: 122,353,209 (GRCm39)	Y463C	probably damaging	Het
Srpk2	A	T	5: 23,745,500 (GRCm39)		probably benign	Het
Ube3b	A	G	5: 114,531,147 (GRCm39)	T214A	possibly damaging	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zpld1	C	G	16: 55,053,881 (GRCm39)	D304H	probably damaging	Het

Other mutations in Slc10a4-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Slc10a4-ps	APN	5	72,743,547 (GRCm39)	critical splice donor site	probably null
R2318:Slc10a4-ps	UTSW	5	72,743,638 (GRCm39)	missense	probably benign	0.00
R7002:Slc10a4-ps	UTSW	5	72,743,763 (GRCm39)	critical splice acceptor site	probably null
Z1177:Slc10a4-ps	UTSW	5	72,743,689 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGCCTACCTTCACGATGTAG -3'
(R):5'- CCTAGGTCATTGTCTTGCCTGG -3'

Sequencing Primer
(F):5'- TTCACGATGTAGTCAGCCACG -3'
(R):5'- ATAGATTCTCTGCAGACTTCAACCCG -3'

Posted On

2015-05-15