Mutagenetix > Incidental Mutation

Incidental Mutation 'R4209:Tmem120a'

319062

Institutional Source

Beutler Lab

Gene Symbol

Tmem120a

Ensembl Gene

ENSMUSG00000039886

Gene Name

transmembrane protein 120A

Synonyms

Tmpit, 2010310D06Rik

MMRRC Submission

041038-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R4209 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135764344-135773026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135764559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 340 (N340S)

Ref Sequence

ENSEMBL: ENSMUSP00000045252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000043378] [ENSMUST00000122113] [ENSMUST00000153515] [ENSMUST00000153399] [ENSMUST00000153500]

AlphaFold

Q8C1E7

Predicted Effect

probably benign
Transcript: ENSMUST00000005651

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	1.6e-40	PFAM
Pfam:FAD_binding_1	274	493	1.3e-84	PFAM
Pfam:NAD_binding_1	530	642	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043378
AA Change: N340S

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

SMART Domains

Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886
AA Change: N340S

Domain	Start	End	E-Value	Type
Pfam:TMPIT	13	336	4.2e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122113

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	2.6e-40	PFAM
Pfam:FAD_binding_1	274	493	5.1e-87	PFAM
Pfam:NAD_binding_1	530	605	3.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149684

Predicted Effect

probably benign
Transcript: ENSMUST00000153515

SMART Domains

Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	3.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153399

SMART Domains

Protein: ENSMUSP00000120834
Gene: ENSMUSG00000039886

Domain	Start	End	E-Value	Type
Pfam:TMPIT	12	93	9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153500

SMART Domains

Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	5.9e-41	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	T	3: 59,784,577 (GRCm39)	Y350F	probably damaging	Het
Ahnak	G	A	19: 8,979,964 (GRCm39)	G416D	probably damaging	Het
Ap3b2	C	A	7: 81,126,884 (GRCm39)	A289S	probably benign	Het
Arhgap23	C	A	11: 97,345,322 (GRCm39)	T657K	probably damaging	Het
Bcl9	A	G	3: 97,117,269 (GRCm39)	L475P	probably damaging	Het
Bean1	T	A	8: 104,940,566 (GRCm39)	M1K	probably null	Het
Cand1	T	A	10: 119,047,463 (GRCm39)	I676F	probably benign	Het
Casp3	G	T	8: 47,088,423 (GRCm39)	D107Y	probably damaging	Het
Cops4	T	A	5: 100,695,352 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,415,397 (GRCm39)	D626E	probably damaging	Het
Dpysl2	T	C	14: 67,052,926 (GRCm39)	S308G	probably damaging	Het
Fezf1	T	C	6: 23,246,616 (GRCm39)	K323E	probably damaging	Het
Gm10272	T	C	10: 77,542,665 (GRCm39)	V69A	possibly damaging	Het
Gtf2f1	A	G	17: 57,318,003 (GRCm39)	V11A	probably benign	Het
Hnf4a	T	C	2: 163,410,809 (GRCm39)	S378P	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Irf8	T	A	8: 121,480,208 (GRCm39)	Y149N	probably damaging	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mcpt8	G	A	14: 56,321,375 (GRCm39)	H30Y	probably damaging	Het
Mycl	G	T	4: 122,893,715 (GRCm39)	V172L	possibly damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Ppp2r2a	A	G	14: 67,266,328 (GRCm39)	L111S	probably damaging	Het
Prdm2	T	C	4: 142,861,007 (GRCm39)	D761G	probably damaging	Het
Sec11a	A	T	7: 80,584,790 (GRCm39)	I49N	probably damaging	Het
Sesn3	T	C	9: 14,217,505 (GRCm39)	I30T	probably benign	Het
Slc22a21	A	G	11: 53,846,881 (GRCm39)	S331P	probably benign	Het
Slc38a3	T	G	9: 107,532,547 (GRCm39)	S358R	possibly damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Spns2	T	C	11: 72,345,012 (GRCm39)	D492G	probably benign	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,864,588 (GRCm39)	A243E	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tnik	A	T	3: 28,413,214 (GRCm39)		probably benign	Het
Trim36	A	G	18: 46,329,191 (GRCm39)	L71P	probably benign	Het
Tube1	A	G	10: 39,020,930 (GRCm39)		probably null	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Veph1	A	T	3: 66,151,967 (GRCm39)	L154Q	probably damaging	Het
Vmn1r113	T	C	7: 20,521,535 (GRCm39)	V109A	probably benign	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Wdsub1	G	A	2: 59,707,149 (GRCm39)	P28S	probably damaging	Het
Ybx2	G	T	11: 69,826,767 (GRCm39)		probably benign	Het
Zfyve1	A	T	12: 83,621,909 (GRCm39)	V162E	probably damaging	Het

Other mutations in Tmem120a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Tmem120a	APN	5	135,765,864 (GRCm39)	missense	possibly damaging	0.87
IGL02548:Tmem120a	APN	5	135,765,628 (GRCm39)	missense	probably damaging	1.00
IGL02941:Tmem120a	APN	5	135,764,605 (GRCm39)	missense	probably damaging	1.00
R0194:Tmem120a	UTSW	5	135,771,252 (GRCm39)	missense	possibly damaging	0.79
R0971:Tmem120a	UTSW	5	135,764,958 (GRCm39)	missense	probably damaging	1.00
R2117:Tmem120a	UTSW	5	135,764,977 (GRCm39)	missense	possibly damaging	0.88
R2392:Tmem120a	UTSW	5	135,770,892 (GRCm39)	missense	probably damaging	0.98
R3973:Tmem120a	UTSW	5	135,765,131 (GRCm39)	missense	probably benign	0.02
R5393:Tmem120a	UTSW	5	135,765,104 (GRCm39)	splice site	probably null
R5629:Tmem120a	UTSW	5	135,770,904 (GRCm39)	missense	probably benign	0.06
R7430:Tmem120a	UTSW	5	135,764,990 (GRCm39)	critical splice acceptor site	probably null
R7899:Tmem120a	UTSW	5	135,766,052 (GRCm39)	missense	probably benign	0.00
R7949:Tmem120a	UTSW	5	135,771,220 (GRCm39)	missense	possibly damaging	0.72
R9102:Tmem120a	UTSW	5	135,765,455 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TAGAGCCCGAATCCTGCAAG -3'
(R):5'- GACATTGTTTAACTTGGCCCG -3'

Sequencing Primer
(F):5'- AATCCTGCAAGCTGGGCTC -3'
(R):5'- TGTTTAACTTGGCCCGGGACC -3'

Posted On

2015-06-10