Mutagenetix > Incidental Mutation

Incidental Mutation 'R6773:Tmem259'

543643

Institutional Source

Beutler Lab

Gene Symbol

Tmem259

Ensembl Gene

ENSMUSG00000013858

Gene Name

transmembrane protein 259

Synonyms

ORF61, membralin

MMRRC Submission

044889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6773 (G1)

Quality Score

48.0072

Status

Validated

Chromosome

Chromosomal Location

79812954-79820159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79813422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 519 (D519G)

Ref Sequence

ENSEMBL: ENSMUSP00000056792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000052885]

AlphaFold

Q8CIV2

Predicted Effect

probably benign
Transcript: ENSMUST00000045085

SMART Domains

Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	60	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
PBPe	458	810	1.01e-82	SMART
Lig_chan-Glu_bd	459	522	6.6e-20	SMART
transmembrane domain	826	848	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC
coiled coil region	950	984	N/A	INTRINSIC
low complexity region	989	1001	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052885
AA Change: D519G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: D519G

Domain	Start	End	E-Value	Type
Pfam:Membralin	34	131	3.3e-44	PFAM
Pfam:Membralin	138	393	3.9e-130	PFAM
transmembrane domain	394	411	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	483	521	N/A	INTRINSIC
low complexity region	531	544	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124536
AA Change: D512G

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: D512G

Domain	Start	End	E-Value	Type
Pfam:Membralin	4	101	1.6e-44	PFAM
Pfam:Membralin	108	297	7.7e-83	PFAM
Pfam:Membralin	316	387	5e-42	PFAM
transmembrane domain	388	405	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	477	515	N/A	INTRINSIC
low complexity region	525	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131816

SMART Domains

Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
Pfam:Lig_chan	1	368	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149148

SMART Domains

Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
PBPe	100	452	1.01e-82	SMART
Lig_chan-Glu_bd	101	164	6.6e-20	SMART
transmembrane domain	468	490	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	T	A	3: 92,336,556 (GRCm39)	I49F	probably damaging	Het
Aqp6	A	G	15: 99,500,558 (GRCm39)	D161G	probably damaging	Het
Aqr	A	T	2: 113,979,477 (GRCm39)	N319K	possibly damaging	Het
Asns	C	A	6: 7,676,284 (GRCm39)	R424L	probably benign	Het
Atp4a	T	C	7: 30,414,802 (GRCm39)	V197A	probably damaging	Het
Ccdc70	A	G	8: 22,463,321 (GRCm39)	E37G	probably damaging	Het
Ccdc88b	A	T	19: 6,826,409 (GRCm39)	V1102E	possibly damaging	Het
Cd82	G	A	2: 93,252,221 (GRCm39)	A130V	probably benign	Het
Cfap46	T	C	7: 139,222,477 (GRCm39)		probably benign	Het
Cnot6l	A	C	5: 96,242,158 (GRCm39)	C188W	probably damaging	Het
Cxcr6	A	T	9: 123,639,355 (GRCm39)	T119S	possibly damaging	Het
Dok7	G	A	5: 35,234,528 (GRCm39)	R193H	probably damaging	Het
Dpy19l1	A	T	9: 24,352,068 (GRCm39)	S386T	probably damaging	Het
Frem3	A	C	8: 81,338,444 (GRCm39)	T246P	probably damaging	Het
Gm29666	A	T	15: 84,798,360 (GRCm39)	I67K	unknown	Het
Gpr153	T	A	4: 152,363,757 (GRCm39)	V59E	probably damaging	Het
Inpp4b	G	A	8: 82,583,249 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,482 (GRCm39)	I247V	possibly damaging	Het
Klri1	C	T	6: 129,680,510 (GRCm39)	V91M	possibly damaging	Het
M1ap	T	A	6: 82,945,061 (GRCm39)	D118E	probably damaging	Het
Map4	T	C	9: 109,863,993 (GRCm39)	V406A	probably benign	Het
Nedd4l	T	C	18: 65,300,622 (GRCm39)	V369A	probably benign	Het
Or5ac24	A	T	16: 59,165,579 (GRCm39)	L162I	probably damaging	Het
Otud4	A	G	8: 80,370,435 (GRCm39)	Y71C	possibly damaging	Het
Plcl1	A	G	1: 55,790,461 (GRCm39)	N1044D	probably benign	Het
Ppp4r3b	T	A	11: 29,155,639 (GRCm39)	M114K	probably benign	Het
Prune1	T	C	3: 95,171,082 (GRCm39)	D114G	probably damaging	Het
Rad54l2	A	T	9: 106,570,516 (GRCm39)	V1268D	probably benign	Het
Rbbp6	A	G	7: 122,598,578 (GRCm39)		probably benign	Het
Rimbp3	A	T	16: 17,026,879 (GRCm39)	E101V	probably damaging	Het
Rit1	C	T	3: 88,633,676 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Shisa9	A	G	16: 11,802,892 (GRCm39)	T150A	probably damaging	Het
Smpdl3a	T	C	10: 57,678,533 (GRCm39)	V112A	probably damaging	Het
Strada	T	A	11: 106,055,733 (GRCm39)	I305F	probably damaging	Het
Svep1	C	T	4: 58,049,146 (GRCm39)	E3454K	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tns1	T	C	1: 73,958,866 (GRCm39)	Q445R	probably damaging	Het
Topbp1	A	G	9: 103,220,891 (GRCm39)	D20G	possibly damaging	Het
Trbv5	G	T	6: 41,039,551 (GRCm39)	W52L	probably damaging	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Tulp1	T	C	17: 28,581,876 (GRCm39)	K193E	probably damaging	Het
Unc80	T	C	1: 66,690,702 (GRCm39)	V2459A	probably benign	Het
Vps50	T	C	6: 3,592,560 (GRCm39)	V731A	probably benign	Het

Other mutations in Tmem259

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tmem259	APN	10	79,815,568 (GRCm39)	missense	probably benign	0.12
IGL01022:Tmem259	APN	10	79,819,808 (GRCm39)	missense	probably damaging	1.00
IGL02113:Tmem259	APN	10	79,814,543 (GRCm39)	missense	probably benign	0.00
IGL02218:Tmem259	APN	10	79,814,151 (GRCm39)	missense	possibly damaging	0.91
IGL02272:Tmem259	APN	10	79,814,297 (GRCm39)	missense	probably damaging	1.00
IGL02648:Tmem259	APN	10	79,813,651 (GRCm39)	missense	probably damaging	1.00
IGL02735:Tmem259	APN	10	79,814,973 (GRCm39)	missense	probably damaging	1.00
R0244:Tmem259	UTSW	10	79,814,797 (GRCm39)	missense	probably damaging	1.00
R0535:Tmem259	UTSW	10	79,814,429 (GRCm39)	missense	probably damaging	1.00
R3824:Tmem259	UTSW	10	79,814,282 (GRCm39)	missense	possibly damaging	0.91
R3825:Tmem259	UTSW	10	79,814,282 (GRCm39)	missense	possibly damaging	0.91
R5564:Tmem259	UTSW	10	79,814,442 (GRCm39)	splice site	probably null
R6979:Tmem259	UTSW	10	79,814,391 (GRCm39)	missense	possibly damaging	0.51
R7288:Tmem259	UTSW	10	79,814,300 (GRCm39)	missense	probably damaging	1.00
R7473:Tmem259	UTSW	10	79,815,506 (GRCm39)	missense	possibly damaging	0.48
R7677:Tmem259	UTSW	10	79,814,414 (GRCm39)	missense	probably damaging	1.00
R8531:Tmem259	UTSW	10	79,813,819 (GRCm39)	missense	probably damaging	0.98
R8826:Tmem259	UTSW	10	79,814,983 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem259	UTSW	10	79,814,785 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGACCACAGCTCTCTTG -3'
(R):5'- AATCCAGGAGATGCTGCTTCAG -3'

Sequencing Primer
(F):5'- ACAGCTCTCTTGGGCTCG -3'
(R):5'- AGATGCTGCTTCAGACGCC -3'

Posted On

2019-04-22