Mutagenetix > Incidental Mutations

Incidental Mutation 'R0498:Tmem161a'

40606

Institutional Source

Beutler Lab

Gene Symbol

Tmem161a

Ensembl Gene

ENSMUSG00000002342

Gene Name

transmembrane protein 161A

Synonyms

MMRRC Submission

038694-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70172356-70183681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70180973 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000123084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002413] [ENSMUST00000063788] [ENSMUST00000110127] [ENSMUST00000147656] [ENSMUST00000149105] [ENSMUST00000182715] [ENSMUST00000182980] [ENSMUST00000182365]

Predicted Effect

probably benign
Transcript: ENSMUST00000002413
AA Change: T280A

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

SMART Domains

Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342
AA Change: T280A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	478	6.8e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063788

SMART Domains

Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	29	122	3.4e-23	PFAM
Pfam:Mito_carr	127	219	1.4e-26	PFAM
Pfam:Mito_carr	222	316	3.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110127

SMART Domains

Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	29	122	1.6e-23	PFAM
Pfam:Mito_carr	127	219	7.2e-27	PFAM
Pfam:Mito_carr	222	317	3.3e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125755

Predicted Effect

probably benign
Transcript: ENSMUST00000125906

SMART Domains

Protein: ENSMUSP00000137791
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	1	119	8.7e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143543

Predicted Effect

probably benign
Transcript: ENSMUST00000147656

SMART Domains

Protein: ENSMUSP00000138017
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	270	4.6e-122	PFAM
low complexity region	283	296	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149105
AA Change: T254A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342
AA Change: T254A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	1	95	5.1e-41	PFAM
Pfam:Tmemb_161AB	93	454	9.5e-148	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000182715
AA Change: H117R

SMART Domains

Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342
AA Change: H117R

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	45	3.3e-15	PFAM
low complexity region	152	165	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182980
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342
AA Change: T128A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	1	328	4.6e-133	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182942

Predicted Effect

probably benign
Transcript: ENSMUST00000182365

SMART Domains

Protein: ENSMUSP00000138641
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	98	3.7e-42	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,294	D220V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,872	I461V	possibly damaging	Het
6720489N17Rik	T	C	13: 62,607,387	N39S	probably damaging	Het
Adgrf2	A	G	17: 42,714,315		probably benign	Het
Aldh18a1	A	G	19: 40,574,272	V219A	probably benign	Het
Anapc10	A	G	8: 79,774,981	D126G	probably benign	Het
Ap1m2	T	C	9: 21,295,833	*426W	probably null	Het
Arhgap21	A	G	2: 20,863,117	I865T	probably damaging	Het
Armc8	A	G	9: 99,497,292	V527A	probably damaging	Het
Asic5	A	T	3: 82,006,471		probably benign	Het
Baz2b	A	C	2: 59,901,996		probably benign	Het
Bpifa5	T	C	2: 154,167,249	V237A	probably damaging	Het
Brip1	T	A	11: 86,197,919	K52I	possibly damaging	Het
Cacna1g	T	C	11: 94,459,859	I387V	probably damaging	Het
Cbr4	A	G	8: 61,495,073	I135V	probably benign	Het
Ccdc66	C	T	14: 27,500,240		probably null	Het
Cubn	G	A	2: 13,444,267	T999M	probably damaging	Het
Dpp8	C	T	9: 65,045,795		probably benign	Het
Dsg1b	T	C	18: 20,409,333	S966P	possibly damaging	Het
Erp27	T	C	6: 136,919,864		probably benign	Het
Fat4	A	T	3: 38,980,637	I2813L	probably benign	Het
Fhod1	G	A	8: 105,329,856	R1101C	probably damaging	Het
Hoxc9	T	C	15: 102,983,927	S191P	probably damaging	Het
Izumo4	T	C	10: 80,704,196		probably null	Het
Kalrn	C	T	16: 34,054,891	D104N	possibly damaging	Het
Kank4	A	T	4: 98,779,636	D191E	probably benign	Het
Kbtbd11	A	G	8: 15,027,605	E68G	probably benign	Het
Kdr	C	T	5: 75,959,138	V654I	probably benign	Het
Klra1	A	T	6: 130,372,819		probably null	Het
Kmt2e	T	A	5: 23,478,972	Y373*	probably null	Het
Lepr	A	T	4: 101,745,692	M226L	probably benign	Het
Lrp1b	T	A	2: 41,458,405	I800F	probably benign	Het
Lta4h	T	C	10: 93,471,971		probably benign	Het
Map3k7	T	C	4: 31,974,814		probably benign	Het
Map4k4	G	A	1: 39,990,178	R371Q	probably benign	Het
Mme	A	G	3: 63,346,066	I444V	probably damaging	Het
Mms19	C	T	19: 41,949,773	R582Q	possibly damaging	Het
Mtss1	A	G	15: 58,945,437	S502P	probably damaging	Het
Myo3a	G	T	2: 22,577,429	A232S	possibly damaging	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr727	A	C	14: 50,127,293	T239P	probably damaging	Het
Olfr874	G	A	9: 37,746,254	G40E	probably damaging	Het
Pcm1	G	A	8: 41,293,769	S1335N	probably benign	Het
Pdzph1	A	G	17: 58,973,830	F486L	probably benign	Het
Piezo2	T	C	18: 63,102,174	K552R	possibly damaging	Het
Plekhs1	T	A	19: 56,481,104		probably null	Het
Pprc1	C	T	19: 46,071,568	Q1514*	probably null	Het
Ralgapa1	T	C	12: 55,689,791	T1831A	possibly damaging	Het
Rnpep	G	T	1: 135,265,352	D455E	probably damaging	Het
Rpgrip1	T	A	14: 52,131,314		probably benign	Het
Saxo1	A	T	4: 86,478,896	M135K	possibly damaging	Het
Serpina12	T	C	12: 104,035,789	T223A	probably damaging	Het
Serpinb3a	A	G	1: 107,047,150	F218L	probably damaging	Het
Serpinb9f	T	G	13: 33,326,007		probably benign	Het
Spata33	A	G	8: 123,221,923	D98G	probably benign	Het
Stard13	T	A	5: 151,052,477	Y742F	probably damaging	Het
Tcrg-C3	T	A	13: 19,261,092	M70K	probably damaging	Het
Tecta	A	G	9: 42,377,614	Y552H	probably damaging	Het
Tie1	A	T	4: 118,479,161		probably benign	Het
Tmem30a	G	T	9: 79,774,094	Y264*	probably null	Het
Tmem87a	A	T	2: 120,394,465	I105K	probably benign	Het
Tnrc6b	A	T	15: 80,858,719	D51V	probably damaging	Het
Trpc4	T	C	3: 54,291,211	F519L	probably damaging	Het
Ttn	T	C	2: 76,709,581	T26027A	probably damaging	Het
Vmn1r198	A	C	13: 22,354,974	H121P	probably damaging	Het
Vps33a	A	G	5: 123,570,961	F64L	probably benign	Het
Wdr63	G	T	3: 146,081,364	D305E	possibly damaging	Het
Zfp994	A	T	17: 22,200,901	C356S	probably damaging	Het

Other mutations in Tmem161a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Tmem161a	APN	8	70178974	missense	probably damaging	1.00
IGL02425:Tmem161a	APN	8	70176927	critical splice donor site	probably null
IGL02597:Tmem161a	APN	8	70182043	missense	probably damaging	1.00
IGL02622:Tmem161a	APN	8	70181237	nonsense	probably null
PIT4431001:Tmem161a	UTSW	8	70182024	missense	probably damaging	0.99
R1881:Tmem161a	UTSW	8	70180785	missense	probably null	1.00
R1970:Tmem161a	UTSW	8	70176909	missense	probably damaging	1.00
R1971:Tmem161a	UTSW	8	70176909	missense	probably damaging	1.00
R2027:Tmem161a	UTSW	8	70177520	missense	probably damaging	1.00
R2384:Tmem161a	UTSW	8	70177554	missense	probably benign	0.00
R2870:Tmem161a	UTSW	8	70178915	intron	probably benign
R2872:Tmem161a	UTSW	8	70178915	intron	probably benign
R4271:Tmem161a	UTSW	8	70181512	missense	probably damaging	1.00
R4284:Tmem161a	UTSW	8	70177426	intron	probably benign
R4576:Tmem161a	UTSW	8	70182063	splice site	probably null
R4677:Tmem161a	UTSW	8	70180947	splice site	probably null
R6322:Tmem161a	UTSW	8	70182114	missense	probably damaging	1.00
R6823:Tmem161a	UTSW	8	70181199	missense	probably damaging	1.00
R7452:Tmem161a	UTSW	8	70177488	missense	probably damaging	1.00
R7965:Tmem161a	UTSW	8	70177504	start gained	probably benign
R8269:Tmem161a	UTSW	8	70181958	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCTCCAGACTCCCTGTGATCAAG -3'
(R):5'- TCTGACGGTCTGCAACAAGAGTG -3'

Sequencing Primer
(F):5'- CATTTTCCCTGGCCTGAGG -3'
(R):5'- CTGCAACAAGAGTGAAGCAGG -3'

Posted On

2013-05-23