Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Tmem131'

695348

Institutional Source

Beutler Lab

Gene Symbol

Tmem131

Ensembl Gene

ENSMUSG00000026116

Gene Name

transmembrane protein 131

Synonyms

2610524E03Rik, D1Bwg0491e, CC28, Neg, Rw1, YR-23

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36792191-36943666 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36841686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 168 (S168T)

Ref Sequence

ENSEMBL: ENSMUSP00000027290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027290] [ENSMUST00000185964] [ENSMUST00000194563]

AlphaFold

O70472

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027290
AA Change: S168T

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: S168T

Domain	Start	End	E-Value	Type
low complexity region	5	44	N/A	INTRINSIC
low complexity region	77	89	N/A	INTRINSIC
Pfam:TMEM131_like	106	189	1.7e-32	PFAM
transmembrane domain	1081	1103	N/A	INTRINSIC
transmembrane domain	1116	1138	N/A	INTRINSIC
low complexity region	1232	1258	N/A	INTRINSIC
low complexity region	1283	1315	N/A	INTRINSIC
low complexity region	1369	1382	N/A	INTRINSIC
low complexity region	1384	1433	N/A	INTRINSIC
low complexity region	1460	1471	N/A	INTRINSIC
low complexity region	1595	1610	N/A	INTRINSIC
low complexity region	1613	1626	N/A	INTRINSIC
low complexity region	1628	1646	N/A	INTRINSIC
low complexity region	1675	1684	N/A	INTRINSIC
low complexity region	1693	1701	N/A	INTRINSIC
low complexity region	1738	1748	N/A	INTRINSIC
low complexity region	1760	1779	N/A	INTRINSIC
low complexity region	1799	1810	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185964
AA Change: S57T

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194563
AA Change: S168T

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: S168T

Domain	Start	End	E-Value	Type
low complexity region	5	44	N/A	INTRINSIC
low complexity region	77	89	N/A	INTRINSIC
Pfam:DUF3651	170	243	1.9e-27	PFAM
Pfam:DUF3651	500	580	4.5e-16	PFAM
Pfam:DUF3651	631	706	5.2e-15	PFAM
transmembrane domain	1081	1103	N/A	INTRINSIC
transmembrane domain	1116	1138	N/A	INTRINSIC
low complexity region	1232	1258	N/A	INTRINSIC
low complexity region	1283	1315	N/A	INTRINSIC
low complexity region	1369	1382	N/A	INTRINSIC
low complexity region	1384	1433	N/A	INTRINSIC
low complexity region	1460	1471	N/A	INTRINSIC
low complexity region	1595	1610	N/A	INTRINSIC
low complexity region	1613	1626	N/A	INTRINSIC
low complexity region	1628	1646	N/A	INTRINSIC
low complexity region	1675	1684	N/A	INTRINSIC
low complexity region	1693	1701	N/A	INTRINSIC
low complexity region	1738	1748	N/A	INTRINSIC
low complexity region	1760	1779	N/A	INTRINSIC
low complexity region	1799	1810	N/A	INTRINSIC

Meta Mutation Damage Score

0.2141

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,670,998	L1150V	probably damaging	Het
AB124611	A	G	9: 21,544,693	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,521,183	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,040,084	S213P	probably damaging	Het
Apobec2	A	T	17: 48,432,503	L36H		Het
Arrb1	A	G	7: 99,588,073	D78G		Het
Astn1	A	G	1: 158,510,985	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676	D240H	probably damaging	Het
Cmya5	A	C	13: 93,097,370	D403E	unknown	Het
Crxos	A	C	7: 15,897,511	I45L	probably benign	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,422,861	I4204T		Het
Ei24	A	G	9: 36,786,031	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,883,630	V397F	probably damaging	Het
Eif4g2	T	C	7: 111,073,762	I134V		Het
Fam186a	A	G	15: 99,943,278	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 70,034,657	M210V	probably damaging	Het
Gm21671	CTTT	C	5: 25,950,859		probably benign	Het
Gm4788	A	G	1: 139,732,347	I680T	probably damaging	Het
Gpatch8	A	G	11: 102,479,473	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,645,777	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,167,650	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,122,844	Q445*	probably null	Het
Kcnc3	A	G	7: 44,591,168	N95D	probably damaging	Het
Krt40	C	T	11: 99,539,867		probably null	Het
Lgi1	A	G	19: 38,301,298	T271A	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Map3k21	A	G	8: 125,938,724	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mug1	C	A	6: 121,874,431	D762E	probably damaging	Het
Myo1e	A	T	9: 70,359,323	N615I	probably damaging	Het
Olfr1280	T	C	2: 111,315,482	M1T	probably null	Het
Olfr564	T	C	7: 102,804,132	L218P	probably damaging	Het
Pld5	T	C	1: 175,975,538	E387G	possibly damaging	Het
Pld5	A	G	1: 176,074,437	V195A	probably benign	Het
Rad54l	T	C	4: 116,123,152		probably benign	Het
Rnf123	A	T	9: 108,063,028		probably benign	Het
Rnf213	A	G	11: 119,440,748	E2262G		Het
Rp1	C	A	1: 4,163,938	V910L	unknown	Het
Rpp21	A	T	17: 36,257,515	C23S	probably benign	Het
Scn11a	T	C	9: 119,759,923	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,125,436	L81F	possibly damaging	Het
Sco2	T	C	15: 89,372,160	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,094,232	V112A	probably benign	Het
Slc5a11	A	T	7: 123,265,269	K363*	probably null	Het
Smg1	G	T	7: 118,154,661	T2563K	unknown	Het
Snap47	A	T	11: 59,428,464	S283T	probably damaging	Het
Stat1	G	T	1: 52,139,229	R274L	probably damaging	Het
Stoml1	A	G	9: 58,257,126	T166A		Het
Svs2	G	T	2: 164,237,589	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,659,459	H209L	probably benign	Het
Tmco3	T	A	8: 13,310,228	V477D	possibly damaging	Het
Tmem41a	T	C	16: 21,937,109	N149S	probably damaging	Het
Ttll4	T	C	1: 74,680,066	F359L	probably benign	Het
Ttn	T	A	2: 76,954,818	M784L	unknown	Het
Ubr1	A	G	2: 120,873,122		probably null	Het
Ubxn2b	C	T	4: 6,214,646	P227S	probably damaging	Het
Upb1	C	T	10: 75,430,127	L263F	probably benign	Het
Usp15	T	A	10: 123,113,648	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,613,237	C400Y	probably damaging	Het

Other mutations in Tmem131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tmem131	APN	1	36811427	missense	probably damaging	1.00
IGL00945:Tmem131	APN	1	36827005	splice site	probably benign
IGL01107:Tmem131	APN	1	36829581	missense	probably damaging	1.00
IGL01401:Tmem131	APN	1	36799387	missense	probably damaging	1.00
IGL01533:Tmem131	APN	1	36818722	missense	probably damaging	1.00
IGL01701:Tmem131	APN	1	36808237	missense	probably benign	0.02
IGL01784:Tmem131	APN	1	36815483	missense	probably damaging	1.00
IGL01890:Tmem131	APN	1	36823156	splice site	probably benign
IGL01969:Tmem131	APN	1	36825460	missense	possibly damaging	0.85
IGL02327:Tmem131	APN	1	36799022	missense	probably damaging	1.00
IGL02707:Tmem131	APN	1	36825479	missense	probably benign	0.03
IGL02743:Tmem131	APN	1	36793151	missense	probably benign	0.00
IGL03111:Tmem131	APN	1	36828144	missense	probably damaging	1.00
R0063:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R0063:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R0238:Tmem131	UTSW	1	36828050	splice site	probably benign
R0239:Tmem131	UTSW	1	36828050	splice site	probably benign
R0499:Tmem131	UTSW	1	36841673	missense	probably damaging	1.00
R0548:Tmem131	UTSW	1	36838038	missense	probably damaging	1.00
R0845:Tmem131	UTSW	1	36816222	missense	probably damaging	1.00
R0975:Tmem131	UTSW	1	36854885	missense	probably damaging	1.00
R1018:Tmem131	UTSW	1	36794819	missense	probably damaging	0.98
R1170:Tmem131	UTSW	1	36834898	nonsense	probably null
R1443:Tmem131	UTSW	1	36825478	missense	probably damaging	0.98
R1448:Tmem131	UTSW	1	36827358	missense	probably benign	0.16
R1472:Tmem131	UTSW	1	36816241	missense	possibly damaging	0.68
R1530:Tmem131	UTSW	1	36827009	critical splice donor site	probably null
R1672:Tmem131	UTSW	1	36824759	missense	probably damaging	1.00
R1872:Tmem131	UTSW	1	36807927	missense	probably benign	0.05
R1914:Tmem131	UTSW	1	36796266	missense	probably damaging	1.00
R1915:Tmem131	UTSW	1	36796266	missense	probably damaging	1.00
R1929:Tmem131	UTSW	1	36812271	missense	possibly damaging	0.50
R1971:Tmem131	UTSW	1	36804599	nonsense	probably null
R2146:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2148:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2149:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2150:Tmem131	UTSW	1	36812609	missense	probably benign	0.13
R2386:Tmem131	UTSW	1	36829635	missense	probably benign	0.00
R2879:Tmem131	UTSW	1	36841707	missense	possibly damaging	0.76
R2903:Tmem131	UTSW	1	36825297	missense	probably damaging	1.00
R3430:Tmem131	UTSW	1	36808821	splice site	probably benign
R3821:Tmem131	UTSW	1	36808396	missense	probably damaging	0.99
R3961:Tmem131	UTSW	1	36818950	missense	probably damaging	1.00
R4153:Tmem131	UTSW	1	36808793	intron	probably benign
R4154:Tmem131	UTSW	1	36808793	intron	probably benign
R4502:Tmem131	UTSW	1	36825479	missense	probably benign	0.03
R4503:Tmem131	UTSW	1	36825479	missense	probably benign	0.03
R4795:Tmem131	UTSW	1	36841676	missense	probably damaging	1.00
R5030:Tmem131	UTSW	1	36827174	missense	possibly damaging	0.78
R5068:Tmem131	UTSW	1	36854905	missense	probably damaging	1.00
R5070:Tmem131	UTSW	1	36854905	missense	probably damaging	1.00
R5386:Tmem131	UTSW	1	36872558	missense	possibly damaging	0.47
R5507:Tmem131	UTSW	1	36889280	missense	probably damaging	1.00
R5569:Tmem131	UTSW	1	36799338	missense	probably benign	0.02
R5913:Tmem131	UTSW	1	36819128	missense	probably benign	0.01
R6044:Tmem131	UTSW	1	36881341	nonsense	probably null
R6125:Tmem131	UTSW	1	36808306	missense	possibly damaging	0.95
R6259:Tmem131	UTSW	1	36819128	missense	probably benign	0.09
R6392:Tmem131	UTSW	1	36881342	missense	probably benign	0.10
R6704:Tmem131	UTSW	1	36796180	missense	possibly damaging	0.77
R6828:Tmem131	UTSW	1	36804643	missense	possibly damaging	0.46
R6964:Tmem131	UTSW	1	36796292	missense	probably damaging	0.99
R7034:Tmem131	UTSW	1	36792973	missense	possibly damaging	0.80
R7036:Tmem131	UTSW	1	36792973	missense	possibly damaging	0.80
R7081:Tmem131	UTSW	1	36889295	missense	possibly damaging	0.94
R7278:Tmem131	UTSW	1	36796301	missense	probably damaging	0.99
R7282:Tmem131	UTSW	1	36841604	missense	probably damaging	1.00
R7294:Tmem131	UTSW	1	36854847	missense	possibly damaging	0.88
R7635:Tmem131	UTSW	1	36872548	missense	probably damaging	1.00
R7916:Tmem131	UTSW	1	36823086	missense	probably benign	0.00
R7948:Tmem131	UTSW	1	36794148	missense	probably damaging	1.00
R8012:Tmem131	UTSW	1	36807964	missense	probably damaging	1.00
R8244:Tmem131	UTSW	1	36808893	missense	probably benign	0.08
R8461:Tmem131	UTSW	1	36794821	missense	probably damaging	1.00
R8770:Tmem131	UTSW	1	36799105	splice site	probably benign
R8902:Tmem131	UTSW	1	36808965	missense	probably damaging	1.00
R8915:Tmem131	UTSW	1	36829577	missense	probably damaging	1.00
R8984:Tmem131	UTSW	1	36828147	missense	probably benign	0.05
R8994:Tmem131	UTSW	1	36815457	missense	probably benign	0.29
R9105:Tmem131	UTSW	1	36815510	missense	probably benign	0.44
R9328:Tmem131	UTSW	1	36819155	nonsense	probably null
R9501:Tmem131	UTSW	1	36819184	missense	possibly damaging	0.73
R9633:Tmem131	UTSW	1	36807988	missense	probably damaging	0.99
Z1176:Tmem131	UTSW	1	36796257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCCCTAAACCTAATGTCCTG -3'
(R):5'- GTACAACAGTGTGGCTAACTTG -3'

Sequencing Primer
(F):5'- GCCCTAAACCTAATGTCCTGTATTTC -3'
(R):5'- ACAGTGTGGCTAACTTGAAGGTTAG -3'

Posted On

2022-01-20