Mutagenetix > Incidental Mutation

Incidental Mutation 'R5391:Tmem176a'

425845

Institutional Source

Beutler Lab

Gene Symbol

Tmem176a

Ensembl Gene

ENSMUSG00000023367

Gene Name

transmembrane protein 176A

Synonyms

0610011I04Rik

MMRRC Submission

042963-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5391 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48818417-48822298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48821630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 204 (L204P)

Ref Sequence

ENSEMBL: ENSMUSP00000145101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101426] [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000168406] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203639] [ENSMUST00000204482] [ENSMUST00000204400] [ENSMUST00000203501] [ENSMUST00000204783] [ENSMUST00000205147] [ENSMUST00000203355] [ENSMUST00000205159] [ENSMUST00000204309] [ENSMUST00000204073]

AlphaFold

Q9DCS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000101426
AA Change: L204P

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

SMART Domains

Protein: ENSMUSP00000098969
Gene: ENSMUSG00000023367
AA Change: L204P

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101429

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	5.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164733

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	5.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166247

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168406
AA Change: L204P

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

SMART Domains

Protein: ENSMUSP00000131775
Gene: ENSMUSG00000023367
AA Change: L204P

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	2.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203229

SMART Domains

Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	195	2.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203265

SMART Domains

Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	194	2.9e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203639
AA Change: L204P

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

SMART Domains

Protein: ENSMUSP00000145250
Gene: ENSMUSG00000023367
AA Change: L204P

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.4e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204482
AA Change: L204P

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

SMART Domains

Protein: ENSMUSP00000145101
Gene: ENSMUSG00000023367
AA Change: L204P

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203618

Predicted Effect

probably benign
Transcript: ENSMUST00000204400

Predicted Effect

probably benign
Transcript: ENSMUST00000203501

SMART Domains

Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	170	3.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204783

SMART Domains

Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	1	58	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205147

SMART Domains

Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	195	2.3e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203461

Predicted Effect

probably benign
Transcript: ENSMUST00000203355

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205159

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	196	1.2e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204912

Predicted Effect

probably benign
Transcript: ENSMUST00000204309

Predicted Effect

probably benign
Transcript: ENSMUST00000204073

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,855,481 (GRCm39)	M38I	probably null	Het
Actl7a	A	G	4: 56,743,661 (GRCm39)	T63A	probably benign	Het
Amfr	G	A	8: 94,702,676 (GRCm39)	P497S	probably damaging	Het
Ankrd33b	T	C	15: 31,325,352 (GRCm39)	I122V	probably damaging	Het
Asap1	G	T	15: 63,965,901 (GRCm39)	T1011K	possibly damaging	Het
Cbfa2t3	G	A	8: 123,360,134 (GRCm39)	R506*	probably null	Het
Ccs	C	G	19: 4,883,510 (GRCm39)	C96S	probably benign	Het
Cpt1a	A	G	19: 3,399,260 (GRCm39)	D20G	probably damaging	Het
Ctdspl2	G	A	2: 121,834,629 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,510 (GRCm39)	Y365C	probably damaging	Het
Dnah3	C	T	7: 119,689,299 (GRCm39)	M38I	probably benign	Het
Dnajc6	T	C	4: 101,485,355 (GRCm39)		probably null	Het
Elac2	A	G	11: 64,885,120 (GRCm39)	S450G	probably benign	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Il12rb2	T	C	6: 67,269,404 (GRCm39)	N803S	probably benign	Het
Itgb4	T	A	11: 115,875,894 (GRCm39)	M477K	probably benign	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Krt78	C	A	15: 101,860,263 (GRCm39)	E218*	probably null	Het
Lpar1	A	G	4: 58,486,902 (GRCm39)	L105P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Mov10	G	A	3: 104,709,849 (GRCm39)	H346Y	probably benign	Het
Nfia	A	G	4: 97,671,538 (GRCm39)	I83V	probably damaging	Het
Or5b101	G	T	19: 13,005,150 (GRCm39)	A181E	probably damaging	Het
Or6d15	T	C	6: 116,559,808 (GRCm39)	Y33C	probably damaging	Het
Pcdhgb6	T	G	18: 37,875,640 (GRCm39)	I116S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,586 (GRCm39)	Q133K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Pik3cd	A	T	4: 149,743,588 (GRCm39)	V207E	probably damaging	Het
Ptov1	T	C	7: 44,513,008 (GRCm39)	Q397R	probably damaging	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rasl12	G	T	9: 65,305,949 (GRCm39)	A35S	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,044 (GRCm39)	V657A	possibly damaging	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Tbce	T	C	13: 14,180,550 (GRCm39)	I293M	probably damaging	Het
Tektl1	G	A	10: 78,588,688 (GRCm39)	Q41*	probably null	Het
Tmem87a	A	G	2: 120,193,358 (GRCm39)		probably null	Het
Tns1	A	T	1: 74,029,568 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,037,826 (GRCm39)	S769T	probably benign	Het
Vmn2r82	A	G	10: 79,192,491 (GRCm39)	T23A	probably null	Het
Vps26a	A	G	10: 62,292,526 (GRCm39)	*328Q	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wwc2	A	T	8: 48,316,906 (GRCm39)	I729K	unknown	Het
Zbtb44	A	G	9: 30,964,601 (GRCm39)		probably null	Het
Zfp800	A	T	6: 28,242,992 (GRCm39)	S658T	probably damaging	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zfp935	G	T	13: 62,602,632 (GRCm39)	Y189*	probably null	Het
Zkscan1	T	A	5: 138,095,363 (GRCm39)	H203Q	probably benign	Het
Zkscan14	T	C	5: 145,132,604 (GRCm39)	D309G	probably benign	Het

Other mutations in Tmem176a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01988:Tmem176a	APN	6	48,819,554 (GRCm39)	missense	possibly damaging	0.93
R5329:Tmem176a	UTSW	6	48,819,151 (GRCm39)	missense	probably benign	0.00
R6516:Tmem176a	UTSW	6	48,821,002 (GRCm39)	splice site	probably null
R6846:Tmem176a	UTSW	6	48,820,759 (GRCm39)	missense	probably damaging	1.00
R7138:Tmem176a	UTSW	6	48,820,953 (GRCm39)	missense	probably damaging	1.00
R7524:Tmem176a	UTSW	6	48,821,039 (GRCm39)	missense	probably benign	0.00
R7766:Tmem176a	UTSW	6	48,821,116 (GRCm39)	splice site	probably null
R9673:Tmem176a	UTSW	6	48,820,952 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AATCTCTCACGTCACAGCTCAG -3'
(R):5'- GGACTCACATAATGAACTCCCTTC -3'

Sequencing Primer
(F):5'- AAAGGTTTCTGGTGAGTTCTACCCTC -3'
(R):5'- ATAATGAACTCCCTTCTTCCCTAAG -3'

Posted On

2016-08-04