Mutagenetix > Incidental Mutation

Incidental Mutation 'R9067:Tmem120b'

689305

Institutional Source

Beutler Lab

Gene Symbol

Tmem120b

Ensembl Gene

ENSMUSG00000054434

Gene Name

transmembrane protein 120B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9067 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123214329-123256276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123236307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 47 (I47F)

Ref Sequence

ENSEMBL: ENSMUSP00000068551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067505] [ENSMUST00000111619] [ENSMUST00000160344] [ENSMUST00000160479] [ENSMUST00000161059] [ENSMUST00000186469]

AlphaFold

Q3TA38

Predicted Effect

probably damaging
Transcript: ENSMUST00000067505
AA Change: I47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: I47F

Domain	Start	End	E-Value	Type
Pfam:TMPIT	9	332	1.9e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111619
AA Change: I47F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: I47F

Domain	Start	End	E-Value	Type
Pfam:TMPIT	7	64	1.3e-14	PFAM
Pfam:TMPIT	60	298	1.3e-127	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160344
AA Change: I47F

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124971
Gene: ENSMUSG00000054434
AA Change: I47F

Domain	Start	End	E-Value	Type
Pfam:TMPIT	7	64	4.1e-16	PFAM
Pfam:TMPIT	62	120	1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160479

SMART Domains

Protein: ENSMUSP00000124866
Gene: ENSMUSG00000029449

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
RHO	22	195	1.5e-98	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161059
AA Change: I47F

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

SMART Domains

Protein: ENSMUSP00000124358
Gene: ENSMUSG00000054434
AA Change: I47F

Domain	Start	End	E-Value	Type
Pfam:TMPIT	7	106	3.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186469

SMART Domains

Protein: ENSMUSP00000140177
Gene: ENSMUSG00000029449

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
RHO	22	195	1.5e-98	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,522,493 (GRCm39)	D202A	probably damaging	Het
Aass	T	A	6: 23,077,123 (GRCm39)	R745S	probably benign	Het
Adamts14	C	T	10: 61,085,439 (GRCm39)	R195H	possibly damaging	Het
Afm	T	C	5: 90,671,674 (GRCm39)	F119L	probably benign	Het
Alox5ap	T	A	5: 149,222,190 (GRCm39)	V93E	probably damaging	Het
Ascl3	G	A	7: 109,327,104 (GRCm39)	P72S	probably benign	Het
Cacnb1	C	A	11: 97,896,131 (GRCm39)	D386Y	probably damaging	Het
Ccdc121rt3	T	G	5: 112,502,706 (GRCm39)	I333L	possibly damaging	Het
Cep350	T	C	1: 155,737,485 (GRCm39)	E2786G	probably benign	Het
Chd1	A	T	17: 15,951,107 (GRCm39)	K227N	possibly damaging	Het
Cyp4f13	C	G	17: 33,143,801 (GRCm39)	E508Q	probably damaging	Het
Dlgap1	T	A	17: 71,116,186 (GRCm39)	L843Q	probably damaging	Het
Elk4	T	G	1: 131,942,143 (GRCm39)	I5S	possibly damaging	Het
Erc1	A	T	6: 119,774,036 (GRCm39)	D306E	possibly damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Gdf2	A	T	14: 33,663,411 (GRCm39)	T102S	probably benign	Het
Glb1	A	G	9: 114,302,922 (GRCm39)	N586S	probably damaging	Het
Gm45861	T	A	8: 27,995,043 (GRCm39)	S472T	unknown	Het
Gm5800	G	A	14: 51,951,995 (GRCm39)	A89V	possibly damaging	Het
Gpalpp1	A	G	14: 76,344,792 (GRCm39)	S64P	probably damaging	Het
Hbq1a	T	C	11: 32,250,400 (GRCm39)	V63A	probably damaging	Het
Htr7	A	G	19: 36,034,490 (GRCm39)	V55A	probably benign	Het
Ica1	T	A	6: 8,667,362 (GRCm39)	D268V	probably benign	Het
Ipo8	T	C	6: 148,678,730 (GRCm39)	E956G	probably damaging	Het
Itprid2	G	A	2: 79,475,180 (GRCm39)	E380K	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kdr	T	C	5: 76,109,428 (GRCm39)	D983G	probably damaging	Het
Klhl23	C	G	2: 69,664,083 (GRCm39)	I477M	possibly damaging	Het
Kpna2	G	T	11: 106,882,039 (GRCm39)	H262Q	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrc17	G	A	5: 21,766,033 (GRCm39)	E172K	probably benign	Het
Lrrc45	A	T	11: 120,606,649 (GRCm39)	I184F	possibly damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mtf2	A	G	5: 108,252,133 (GRCm39)	D423G	probably benign	Het
Ndfip2	A	G	14: 105,525,157 (GRCm39)	D146G	probably benign	Het
Nfat5	A	G	8: 108,094,536 (GRCm39)	I926V	probably benign	Het
Paqr6	T	A	3: 88,273,328 (GRCm39)	S107T	probably damaging	Het
Pdgfrb	G	A	18: 61,201,291 (GRCm39)	S459N	probably null	Het
Pld5	T	A	1: 175,917,474 (GRCm39)	H153L	probably benign	Het
Pmfbp1	A	G	8: 110,263,244 (GRCm39)	R788G	possibly damaging	Het
Smok2a	A	C	17: 13,445,825 (GRCm39)	R467S	probably damaging	Het
Sncaip	A	C	18: 53,039,973 (GRCm39)	K722N	probably damaging	Het
Sycp2	A	G	2: 177,989,214 (GRCm39)		probably null	Het
Syne2	T	A	12: 75,950,994 (GRCm39)	W382R	probably damaging	Het
Tiam2	T	C	17: 3,561,407 (GRCm39)	V1324A	probably damaging	Het
Tubg2	G	A	11: 101,049,957 (GRCm39)	C201Y	probably damaging	Het
Umodl1	A	G	17: 31,192,677 (GRCm39)	E268G	probably damaging	Het
Zfyve26	T	G	12: 79,318,915 (GRCm39)	D1141A	probably damaging	Het

Other mutations in Tmem120b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Tmem120b	APN	5	123,253,229 (GRCm39)	splice site	probably null
IGL00334:Tmem120b	APN	5	123,253,230 (GRCm39)	missense	probably damaging	0.99
IGL03064:Tmem120b	APN	5	123,240,336 (GRCm39)	missense	possibly damaging	0.74
altogether	UTSW	5	123,254,302 (GRCm39)	missense	probably damaging	1.00
R3176:Tmem120b	UTSW	5	123,252,167 (GRCm39)	missense	probably damaging	1.00
R3276:Tmem120b	UTSW	5	123,252,167 (GRCm39)	missense	probably damaging	1.00
R5603:Tmem120b	UTSW	5	123,239,705 (GRCm39)	missense	possibly damaging	0.78
R5990:Tmem120b	UTSW	5	123,242,544 (GRCm39)	missense	probably damaging	1.00
R6102:Tmem120b	UTSW	5	123,253,207 (GRCm39)	missense	probably damaging	1.00
R6264:Tmem120b	UTSW	5	123,253,763 (GRCm39)	missense	probably damaging	1.00
R6577:Tmem120b	UTSW	5	123,254,710 (GRCm39)	missense	probably damaging	0.98
R6936:Tmem120b	UTSW	5	123,254,287 (GRCm39)	missense	possibly damaging	0.81
R7114:Tmem120b	UTSW	5	123,254,741 (GRCm39)	missense	probably damaging	1.00
R8169:Tmem120b	UTSW	5	123,237,999 (GRCm39)	nonsense	probably null
R8893:Tmem120b	UTSW	5	123,254,302 (GRCm39)	missense	probably damaging	1.00
R9159:Tmem120b	UTSW	5	123,242,566 (GRCm39)	missense	possibly damaging	0.89
R9659:Tmem120b	UTSW	5	123,253,788 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCGTGTCATTATAGCGGTC -3'
(R):5'- TCGTAGATGGCCACCTAACTG -3'

Sequencing Primer
(F):5'- GTGTCATTATAGCGGTCCCATC -3'
(R):5'- CCTAGATCCAGTGATGCCTGAAG -3'

Posted On

2021-11-19