Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Tmem198b'

725371

Institutional Source

Beutler Lab

Gene Symbol

Tmem198b

Ensembl Gene

ENSMUSG00000047090

Gene Name

transmembrane protein 198b

Synonyms

1110012D08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9629 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

128635905-128640239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128638386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 59 (G59V)

Ref Sequence

ENSEMBL: ENSMUSP00000050451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026410] [ENSMUST00000026411] [ENSMUST00000051011] [ENSMUST00000139227] [ENSMUST00000217745] [ENSMUST00000218001] [ENSMUST00000218511] [ENSMUST00000219404] [ENSMUST00000219508]

AlphaFold

Q8CFU0

Predicted Effect

probably benign
Transcript: ENSMUST00000026410

SMART Domains

Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
DnaJ	443	500	1.3e-21	SMART
Pfam:Jiv90	532	621	5.9e-40	PFAM
low complexity region	690	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026411

SMART Domains

Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:PG_binding_1	26	81	6.7e-10	PFAM
ZnMc	101	258	5.13e-43	SMART
low complexity region	262	271	N/A	INTRINSIC
HX	293	335	8.97e-8	SMART
HX	337	378	1e-5	SMART
HX	380	427	1.87e-5	SMART
HX	429	471	3.7e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000051011
AA Change: G59V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090
AA Change: G59V

Domain	Start	End	E-Value	Type
Pfam:DUF4203	43	240	2.4e-47	PFAM
low complexity region	257	271	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139227
AA Change: G59V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090
AA Change: G59V

Domain	Start	End	E-Value	Type
Pfam:DUF4203	42	96	4.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217745

Predicted Effect

probably benign
Transcript: ENSMUST00000218001

Predicted Effect

probably benign
Transcript: ENSMUST00000218511

Predicted Effect

probably benign
Transcript: ENSMUST00000219404

Predicted Effect

probably benign
Transcript: ENSMUST00000219508

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing compared with wild-type littermates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dbr1	T	A	9: 99,464,523 (GRCm39)	C101S		Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Naca	A	G	10: 127,878,226 (GRCm39)	E1086G	unknown	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,717,187 (GRCm39)	Y366*	probably null	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem30c	T	G	16: 57,096,585 (GRCm39)	I179L	probably benign	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Xirp1	C	T	9: 119,846,379 (GRCm39)	V835I	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	probably damaging	Het

Other mutations in Tmem198b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Tmem198b	APN	10	128,639,014 (GRCm39)	missense	probably damaging	1.00
IGL02623:Tmem198b	APN	10	128,638,320 (GRCm39)	missense	probably damaging	1.00
R1636:Tmem198b	UTSW	10	128,638,065 (GRCm39)	missense	probably damaging	0.99
R2922:Tmem198b	UTSW	10	128,638,062 (GRCm39)	missense	probably damaging	1.00
R4724:Tmem198b	UTSW	10	128,637,350 (GRCm39)	missense	probably damaging	0.99
R5013:Tmem198b	UTSW	10	128,637,942 (GRCm39)	missense	probably damaging	1.00
R5092:Tmem198b	UTSW	10	128,637,305 (GRCm39)	missense	probably benign
R5107:Tmem198b	UTSW	10	128,638,156 (GRCm39)	missense	probably benign
R5818:Tmem198b	UTSW	10	128,638,057 (GRCm39)	missense	probably benign	0.02
R5930:Tmem198b	UTSW	10	128,637,323 (GRCm39)	missense	possibly damaging	0.90
R9205:Tmem198b	UTSW	10	128,639,057 (GRCm39)	missense	probably damaging	1.00
R9777:Tmem198b	UTSW	10	128,638,273 (GRCm39)	missense	possibly damaging	0.80
Z1176:Tmem198b	UTSW	10	128,638,105 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TCAGAAAGAGCCCGACACTG -3'
(R):5'- AGGACCTAGATGCTGTCCTG -3'

Sequencing Primer
(F):5'- ACACTGCGGACCAGCATG -3'
(R):5'- TTCCCACAGTGCATCCAC -3'

Posted On

2022-09-12