Mutagenetix > Incidental Mutation

Incidental Mutation 'R9664:Tmem198'

735587

Institutional Source

Beutler Lab

Gene Symbol

Tmem198

Ensembl Gene

ENSMUSG00000051703

Gene Name

transmembrane protein 198

Synonyms

A230078I05Rik, Tmem198-1, Tmem198a

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

R9664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75456176-75462349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75459272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 76 (I76F)

Ref Sequence

ENSEMBL: ENSMUSP00000057865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050899] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113567] [ENSMUST00000113575] [ENSMUST00000124042] [ENSMUST00000138683] [ENSMUST00000148980] [ENSMUST00000187411]

AlphaFold

Q8BG75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050899
AA Change: I76F

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703
AA Change: I76F

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: ENSMUST00000113567

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	8e-57	PDB
Blast:IG_like	622	711	3e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART
IG	996	1075	1.27e-5	SMART
IGc2	1094	1160	4.07e-4	SMART
IGc2	1186	1252	9.49e-5	SMART
IG	1274	1353	7.41e-7	SMART
IG	1363	1444	1.15e-3	SMART
IG	1454	1533	8.33e-1	SMART
IGc2	1549	1615	8.72e-4	SMART
IG	1633	1712	1e-3	SMART
IG	1723	1802	3.82e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113575
AA Change: I76F

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703
AA Change: I76F

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

probably benign
Transcript: ENSMUST00000148980

SMART Domains

Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187411
AA Change: I127F

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703
AA Change: I127F

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	A	15: 76,478,383 (GRCm39)	D277N	probably damaging	Het
Adgrv1	A	T	13: 81,670,288 (GRCm39)	S2353T	probably benign	Het
Adgrv1	A	T	13: 81,743,371 (GRCm39)	N43K	probably damaging	Het
Adnp2	A	G	18: 80,185,937 (GRCm39)	I12T	probably damaging	Het
Ahnak2	A	G	12: 112,741,363 (GRCm39)	L903P	probably damaging	Het
Ankhd1	T	G	18: 36,780,878 (GRCm39)	S1977A	probably benign	Het
Ap1m2	T	C	9: 21,216,983 (GRCm39)	M118V	probably benign	Het
Ap3d1	T	C	10: 80,548,639 (GRCm39)	K846R	possibly damaging	Het
Aqr	C	A	2: 113,971,396 (GRCm39)	E480*	probably null	Het
Arl6	G	T	16: 59,434,199 (GRCm39)	Q182K	probably benign	Het
Arpc2	A	G	1: 74,294,034 (GRCm39)	K106E	probably benign	Het
Atp8a1	A	C	5: 67,889,524 (GRCm39)	F599V		Het
B3galt5	A	T	16: 96,117,203 (GRCm39)	I279F	probably damaging	Het
Calcoco2	G	T	11: 95,991,104 (GRCm39)	A211D	unknown	Het
Ccdc33	T	C	9: 57,993,855 (GRCm39)	E342G	possibly damaging	Het
Ccdc88a	C	A	11: 29,405,484 (GRCm39)	Q386K	probably benign	Het
Cdh20	A	G	1: 104,862,065 (GRCm39)	K82E	probably benign	Het
Clca3a2	A	T	3: 144,503,575 (GRCm39)	Y792N	probably damaging	Het
Col6a6	T	C	9: 105,658,254 (GRCm39)	I653V	probably benign	Het
Col7a1	C	T	9: 108,812,649 (GRCm39)	R2826W	unknown	Het
D6Ertd527e	A	G	6: 87,088,908 (GRCm39)	N357S	unknown	Het
Dmgdh	T	A	13: 93,857,123 (GRCm39)	N742K	probably benign	Het
Dnai3	T	C	3: 145,748,594 (GRCm39)	N840S	probably benign	Het
Dnajc6	A	G	4: 101,475,821 (GRCm39)	N565D	probably benign	Het
Doc2g	A	G	19: 4,054,390 (GRCm39)	Y155C	probably damaging	Het
Dot1l	G	A	10: 80,624,361 (GRCm39)	G943D	probably damaging	Het
Dst	T	C	1: 34,220,736 (GRCm39)	V2180A	probably benign	Het
Eftud2	A	C	11: 102,759,422 (GRCm39)	Y160*	probably null	Het
Ehd1	A	T	19: 6,331,262 (GRCm39)	Q140L	probably benign	Het
Etv3	T	C	3: 87,443,172 (GRCm39)	V252A	probably benign	Het
F11	A	T	8: 45,694,566 (GRCm39)	C598*	probably null	Het
Fancm	T	A	12: 65,137,758 (GRCm39)	N316K	probably benign	Het
Flnc	T	C	6: 29,457,214 (GRCm39)	V2372A	probably damaging	Het
Fry	A	G	5: 150,282,488 (GRCm39)	R338G	probably damaging	Het
Gfra3	T	C	18: 34,837,591 (GRCm39)	T136A	probably benign	Het
Golga7b	T	C	19: 42,255,462 (GRCm39)	V113A	possibly damaging	Het
Gpn3	G	T	5: 122,520,306 (GRCm39)	V102L		Het
Herc2	A	G	7: 55,820,338 (GRCm39)	N2859S	possibly damaging	Het
Hpd	A	T	5: 123,318,948 (GRCm39)		probably null	Het
Hspg2	C	T	4: 137,266,887 (GRCm39)	T1964I	probably benign	Het
Hydin	A	T	8: 111,220,965 (GRCm39)	T1454S	probably benign	Het
Irgm2	A	T	11: 58,110,872 (GRCm39)	T188S	possibly damaging	Het
Jak3	A	G	8: 72,131,366 (GRCm39)	D77G	probably damaging	Het
Kcnj4	G	T	15: 79,369,220 (GRCm39)	F253L	possibly damaging	Het
Kidins220	T	A	12: 25,106,895 (GRCm39)	D1358E	probably benign	Het
Klf1	C	A	8: 85,630,061 (GRCm39)	C295*	probably null	Het
Kmt2a	C	T	9: 44,760,102 (GRCm39)	W582*	probably null	Het
Lrig2	A	G	3: 104,371,556 (GRCm39)	C716R	probably damaging	Het
Lrp1b	C	T	2: 40,765,004 (GRCm39)	D2941N		Het
Lrpprc	A	T	17: 85,020,262 (GRCm39)	V1141E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,273 (GRCm39)	G158D	probably benign	Het
Muc5b	C	A	7: 141,409,279 (GRCm39)	A1121D	unknown	Het
Nf1	G	T	11: 79,334,733 (GRCm39)	V852L	probably damaging	Het
Nlrp5	A	G	7: 23,118,286 (GRCm39)	E670G	probably benign	Het
Notch4	A	G	17: 34,784,601 (GRCm39)	T101A	probably benign	Het
Or10a49	T	C	7: 108,467,563 (GRCm39)	Y266C	probably damaging	Het
Or2t35	T	A	14: 14,407,963 (GRCm38)	I245K	probably benign	Het
Or5b123	G	A	19: 13,597,365 (GRCm39)	V237I	probably benign	Het
P2rx2	T	C	5: 110,488,172 (GRCm39)	T461A	probably benign	Het
Pank1	G	A	19: 34,799,194 (GRCm39)	T419I	probably damaging	Het
Patz1	T	C	11: 3,244,562 (GRCm39)	V481A	unknown	Het
Pdlim5	A	G	3: 142,018,058 (GRCm39)	L179P	probably benign	Het
Pik3ap1	A	T	19: 41,296,967 (GRCm39)	V461D	probably damaging	Het
Polq	T	C	16: 36,848,176 (GRCm39)	V261A	probably damaging	Het
Ppm1a	G	A	12: 72,837,451 (GRCm39)	V333M	possibly damaging	Het
R3hcc1l	T	C	19: 42,552,671 (GRCm39)	L556P	probably benign	Het
Rabggta	G	A	14: 55,956,375 (GRCm39)	Q365*	probably null	Het
Ranbp9	T	C	13: 43,578,519 (GRCm39)	T185A	probably benign	Het
Rd3l	T	G	12: 111,945,913 (GRCm39)	N189H	probably damaging	Het
Rnf17	A	G	14: 56,722,636 (GRCm39)	T1066A	probably damaging	Het
Rnf213	G	A	11: 119,332,794 (GRCm39)	A2669T		Het
Ros1	T	A	10: 51,996,931 (GRCm39)	H1268L	probably benign	Het
Rps6ka4	G	T	19: 6,809,354 (GRCm39)	S433R	possibly damaging	Het
Ryr1	A	G	7: 28,759,092 (GRCm39)	L3362P	probably damaging	Het
Setd1b	A	T	5: 123,298,046 (GRCm39)	T1361S	unknown	Het
Setd2	T	C	9: 110,377,570 (GRCm39)	S462P	probably damaging	Het
Sgsm3	A	T	15: 80,890,935 (GRCm39)	Q132L	probably benign	Het
Slx1b	C	A	7: 126,291,698 (GRCm39)	R122L	probably damaging	Het
Sorbs2	A	T	8: 46,276,788 (GRCm39)	T1167S	probably benign	Het
Spdya	A	C	17: 71,869,513 (GRCm39)	T103P	probably damaging	Het
Stfa2	A	G	16: 36,228,638 (GRCm39)	S20P	probably benign	Het
Sulf1	A	G	1: 12,891,026 (GRCm39)	T400A	probably benign	Het
Tardbp	A	T	4: 148,709,751 (GRCm39)	D23E	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tgm1	C	T	14: 55,948,441 (GRCm39)	D237N	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Trpv2	A	T	11: 62,475,385 (GRCm39)	Y266F	probably damaging	Het
Ttn	C	T	2: 76,569,845 (GRCm39)	G27016E	probably damaging	Het
Ttn	T	C	2: 76,781,824 (GRCm39)	E1074G	unknown	Het
Unc5b	A	T	10: 60,613,322 (GRCm39)	W305R	probably damaging	Het
Usp38	A	G	8: 81,741,164 (GRCm39)		probably benign	Het
Vmn1r79	A	G	7: 11,910,582 (GRCm39)	T155A	probably benign	Het
Vwce	G	A	19: 10,615,481 (GRCm39)	V121I	probably benign	Het
Wdr91	A	T	6: 34,865,961 (GRCm39)	D530E	probably benign	Het
Wnt4	A	G	4: 137,023,929 (GRCm39)	T299A	probably benign	Het
Yeats2	T	A	16: 20,047,491 (GRCm39)	Y1284*	probably null	Het
Zfp113	A	T	5: 138,148,888 (GRCm39)	Y85*	probably null	Het
Zfp184	A	G	13: 22,144,096 (GRCm39)	T601A	probably benign	Het
Zfp655	A	G	5: 145,180,442 (GRCm39)	E100G	probably damaging	Het

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
R6369:Tmem198	UTSW	1	75,456,387 (GRCm39)	missense	probably benign	0.00
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
Z1088:Tmem198	UTSW	1	75,456,906 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CGATTCTCAGCAAACATCTGC -3'
(R):5'- CTGGTAATAGGGTGCAGAGC -3'

Sequencing Primer
(F):5'- TCCATGGCCCACCTTGAG -3'
(R):5'- CCTAGTAGGGCAGCAGCAG -3'

Posted On

2022-11-14