Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Tmem198'

512828

Institutional Source

Beutler Lab

Gene Symbol

Tmem198

Ensembl Gene

ENSMUSG00000051703

Gene Name

transmembrane protein 198

Synonyms

A230078I05Rik, Tmem198-1, Tmem198a

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R6369 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

75456176-75462349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75456387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

Ref Sequence

ENSEMBL: ENSMUSP00000116977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050899] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113575] [ENSMUST00000124042] [ENSMUST00000138683] [ENSMUST00000187411] [ENSMUST00000148980]

AlphaFold

Q8BG75

Predicted Effect

probably benign
Transcript: ENSMUST00000050899

SMART Domains

Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	40	236	7.2e-51	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079205

SMART Domains

Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC
Pfam:CHGN	262	761	5e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094818

SMART Domains

Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
Pfam:CHGN	100	599	3.3e-174	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113575

SMART Domains

Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	39	237	2.2e-59	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124042

SMART Domains

Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138683

SMART Domains

Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143496

Predicted Effect

unknown
Transcript: ENSMUST00000187411
AA Change: S14P

SMART Domains

Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703
AA Change: S14P

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
Pfam:DUF4203	101	142	6.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148980
AA Change: V44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703
AA Change: V44A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:DUF4203	119	150	6.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156499

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 14,055,605 (GRCm39)	R571*	probably null	Het
Asb18	A	T	1: 89,942,193 (GRCm39)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atl2	T	C	17: 80,161,984 (GRCm39)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,220,315 (GRCm39)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,531,765 (GRCm39)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,735,848 (GRCm39)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,839,073 (GRCm39)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,994,984 (GRCm39)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,848,381 (GRCm39)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,165,200 (GRCm39)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,585,020 (GRCm39)		probably benign	Het
Ctnna2	A	G	6: 76,957,678 (GRCm39)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Ero1a	T	C	14: 45,537,415 (GRCm39)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,845,212 (GRCm39)	M344T	unknown	Het
Frem1	A	T	4: 82,832,029 (GRCm39)		probably null	Het
Gjb5	G	T	4: 127,249,723 (GRCm39)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hk2	G	T	6: 82,713,734 (GRCm39)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,411,427 (GRCm39)	I322F	probably benign	Het
Itga1	T	C	13: 115,102,196 (GRCm39)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,693 (GRCm39)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,304,355 (GRCm39)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,618,209 (GRCm39)	D96E	probably benign	Het
Megf10	A	T	18: 57,394,259 (GRCm39)	D461V	probably benign	Het
Myom1	T	C	17: 71,408,071 (GRCm39)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,529,381 (GRCm39)	L172P	probably damaging	Het
Or2g1	T	G	17: 38,106,387 (GRCm39)	D17E	probably benign	Het
Pate1	A	G	9: 35,598,324 (GRCm39)	V18A	probably benign	Het
Pink1	T	C	4: 138,048,045 (GRCm39)		probably null	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,889,840 (GRCm39)		probably null	Het
Rad52	A	G	6: 119,891,168 (GRCm39)	E76G	unknown	Het
Rad54l	A	G	4: 115,968,386 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,267,954 (GRCm39)	M17V	probably benign	Het
Rbm42	A	G	7: 30,340,738 (GRCm39)	M411T	unknown	Het
Reln	A	G	5: 22,256,359 (GRCm39)	I495T	probably benign	Het
Rnf224	A	G	2: 25,125,954 (GRCm39)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,095,909 (GRCm39)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,053,962 (GRCm39)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,008,483 (GRCm39)	N127K	probably benign	Het
Skint7	A	T	4: 111,837,490 (GRCm39)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,782,196 (GRCm39)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,799,982 (GRCm39)	F263I	probably damaging	Het
Sncaip	A	G	18: 53,001,676 (GRCm39)	I66V	probably damaging	Het
Syngr1	A	C	15: 79,999,791 (GRCm39)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm39)	Y554H	probably benign	Het
Trappc11	T	C	8: 47,965,320 (GRCm39)		probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,767,583 (GRCm39)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,410,308 (GRCm39)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,907,831 (GRCm39)	V270A	probably benign	Het
Zfp92	G	A	X: 72,465,574 (GRCm39)	R189H	possibly damaging	Homo

Other mutations in Tmem198

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Tmem198	APN	1	75,461,014 (GRCm39)	unclassified	probably benign
IGL03033:Tmem198	APN	1	75,459,612 (GRCm39)	missense	possibly damaging	0.92
R1165:Tmem198	UTSW	1	75,456,576 (GRCm39)	intron	probably benign
R1876:Tmem198	UTSW	1	75,461,567 (GRCm39)	missense	probably damaging	1.00
R4638:Tmem198	UTSW	1	75,456,351 (GRCm39)	nonsense	probably null
R5320:Tmem198	UTSW	1	75,456,500 (GRCm39)	missense	probably benign
R6601:Tmem198	UTSW	1	75,457,017 (GRCm39)	missense	possibly damaging	0.71
R7455:Tmem198	UTSW	1	75,456,430 (GRCm39)	missense	unknown
R8027:Tmem198	UTSW	1	75,456,706 (GRCm39)	intron	probably benign
R8163:Tmem198	UTSW	1	75,459,671 (GRCm39)	missense	possibly damaging	0.63
R8502:Tmem198	UTSW	1	75,459,353 (GRCm39)	missense	probably damaging	1.00
R9191:Tmem198	UTSW	1	75,456,426 (GRCm39)	missense	unknown
R9329:Tmem198	UTSW	1	75,456,522 (GRCm39)	missense	probably damaging	0.99
R9664:Tmem198	UTSW	1	75,459,272 (GRCm39)	missense	possibly damaging	0.71
Z1088:Tmem198	UTSW	1	75,456,906 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGTCCATCAGCACCAAAGGC -3'
(R):5'- AACAAGTGCCTGGCTAGAGG -3'

Sequencing Primer
(F):5'- GCACCAAAGGCCGCCAG -3'
(R):5'- AGCCTGAGCACCATCTGTGG -3'

Posted On

2018-04-27