Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Tmem120b'

727440

Institutional Source

Beutler Lab

Gene Symbol

Tmem120b

Ensembl Gene

ENSMUSG00000054434

Gene Name

transmembrane protein 120B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123214329-123256276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123253788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 279 (H279Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031401] [ENSMUST00000067505] [ENSMUST00000111619] [ENSMUST00000160344] [ENSMUST00000160479] [ENSMUST00000161059] [ENSMUST00000186469]

AlphaFold

Q3TA38

Predicted Effect

probably benign
Transcript: ENSMUST00000031401

SMART Domains

Protein: ENSMUSP00000031401
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: ENSMUST00000067505
AA Change: H279Q

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

SMART Domains

Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: H279Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111619
AA Change: H240Q

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: H240Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160344

SMART Domains

Protein: ENSMUSP00000124971
Gene: ENSMUSG00000054434

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 benign
Transcript: ENSMUST00000161059

SMART Domains

Protein: ENSMUSP00000124358
Gene: ENSMUSG00000054434

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cerkl	T	C	2: 79,223,322 (GRCm39)	D133G	possibly damaging	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,342,654 (GRCm39)	R75P	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,273,343 (GRCm39)	S269C	probably damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	probably benign	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
R9067:Tmem120b	UTSW	5	123,236,307 (GRCm39)	missense	probably damaging	1.00
R9159:Tmem120b	UTSW	5	123,242,566 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AAGGCCTATCTTTCTGGTCTG -3'
(R):5'- CGGGCATTTAATGTGTCATCATGG -3'

Sequencing Primer
(F):5'- GATCACTTGAGCCCAGAAGTTTG -3'
(R):5'- AATGTGTCATCATGGGGAGCC -3'

Posted On

2022-10-06