Mutagenetix > Incidental Mutation

Incidental Mutation 'R9124:Tmem8b'

693072

Institutional Source

Beutler Lab

Gene Symbol

Tmem8b

Ensembl Gene

ENSMUSG00000078716

Gene Name

transmembrane protein 8B

Synonyms

4930500O05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R9124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43668971-43692668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43681982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 452 (R452S)

Ref Sequence

ENSEMBL: ENSMUSP00000103498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]

AlphaFold

B1AWJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000107864

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107865

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107866
AA Change: R452S

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: R452S

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
EGF	606	642	1.95e1	SMART
Pfam:DUF3522	652	836	1.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143339

SMART Domains

Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167153

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,792,679 (GRCm39)	N89K	possibly damaging	Het
Abca5	A	T	11: 110,189,005 (GRCm39)	D817E	possibly damaging	Het
Abca8b	G	A	11: 109,828,593 (GRCm39)	S1435F	probably damaging	Het
Akap9	T	C	5: 4,111,284 (GRCm39)	L3115P	probably damaging	Het
Arhgap39	G	A	15: 76,619,467 (GRCm39)	R706W	probably damaging	Het
Atp5mk	T	C	19: 47,074,578 (GRCm39)	M28V	probably benign	Het
BC061237	A	T	14: 44,740,851 (GRCm39)	I84F	possibly damaging	Het
Bhlhe22	T	C	3: 18,109,342 (GRCm39)	S131P	probably damaging	Het
Brinp1	C	A	4: 68,747,582 (GRCm39)	D174Y	probably damaging	Het
Bsdc1	A	G	4: 129,359,068 (GRCm39)	T40A	probably benign	Het
Ccdc65	A	T	15: 98,618,863 (GRCm39)	K281*	probably null	Het
Cd22	T	C	7: 30,572,662 (GRCm39)	I316V	probably benign	Het
Cdhr18	A	G	14: 13,864,354 (GRCm38)	F324S		Het
Cfap100	A	C	6: 90,386,330 (GRCm39)	I275S		Het
Chd3	T	G	11: 69,260,162 (GRCm39)	E19A	unknown	Het
Chrnb1	T	C	11: 69,685,057 (GRCm39)	D91G	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Csmd1	A	G	8: 16,034,806 (GRCm39)	V2455A	probably damaging	Het
Dbp	C	T	7: 45,357,818 (GRCm39)	R229C	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah6	C	A	6: 73,098,882 (GRCm39)	V2058F	possibly damaging	Het
Dsp	T	A	13: 38,377,276 (GRCm39)	V1687D	probably benign	Het
Dtd1	T	A	2: 144,445,798 (GRCm39)	M45K	possibly damaging	Het
Fat1	T	A	8: 45,403,363 (GRCm39)	F38Y	probably benign	Het
Fat1	T	A	8: 45,478,064 (GRCm39)	V2370E	possibly damaging	Het
Fgfr1	T	A	8: 26,060,185 (GRCm39)	D438E	probably damaging	Het
Fsip2	A	T	2: 82,816,103 (GRCm39)	K3945N	probably benign	Het
Galc	C	A	12: 98,220,423 (GRCm39)		probably null	Het
Git1	C	A	11: 77,395,498 (GRCm39)	D398E	possibly damaging	Het
Gm4924	A	G	10: 82,214,875 (GRCm39)	Q891R	unknown	Het
Gpc2	T	C	5: 138,274,784 (GRCm39)		probably benign	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Herc2	A	G	7: 55,834,056 (GRCm39)	N3087S	probably damaging	Het
Ifi204	C	T	1: 173,579,193 (GRCm39)		probably null	Het
Imp4	C	T	1: 34,479,128 (GRCm39)	R4W	unknown	Het
Itfg2	A	G	6: 128,401,770 (GRCm39)	S3P	probably damaging	Het
Kcnn3	C	T	3: 89,428,536 (GRCm39)	T254I	possibly damaging	Het
Kics2	C	T	10: 121,586,416 (GRCm39)	Q244*	probably null	Het
Kpna1	A	G	16: 35,853,644 (GRCm39)	I425V	probably benign	Het
Krt23	A	T	11: 99,383,755 (GRCm39)	S46T	probably damaging	Het
Loxl4	C	A	19: 42,596,099 (GRCm39)	W118L	probably damaging	Het
Lrrc37	T	C	11: 103,509,721 (GRCm39)	Y749C	unknown	Het
Lysmd2	T	A	9: 75,533,075 (GRCm39)	L10Q	probably damaging	Het
Mcm5	T	A	8: 75,851,418 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,909,178 (GRCm39)	D45V	probably damaging	Het
Mdfic2	T	A	6: 98,318,899 (GRCm39)	N22I	possibly damaging	Het
Mfsd10	T	C	5: 34,791,940 (GRCm39)	T341A	probably benign	Het
Micu1	T	A	10: 59,586,335 (GRCm39)	L170Q	probably damaging	Het
Msantd5	T	C	11: 51,125,481 (GRCm39)	S135P	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Myo15a	A	T	11: 60,369,952 (GRCm39)	Q904L	probably benign	Het
Myo6	G	A	9: 80,195,353 (GRCm39)	D908N	unknown	Het
Nlrp4e	A	T	7: 23,020,403 (GRCm39)	M297L	probably benign	Het
Nptn	A	G	9: 58,558,498 (GRCm39)		probably benign	Het
Oas3	A	C	5: 120,912,170 (GRCm39)	D73E	probably damaging	Het
Or12j5	T	A	7: 140,084,222 (GRCm39)	H50L	probably benign	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or6n1	T	C	1: 173,917,341 (GRCm39)	L245P	probably damaging	Het
Pck1	C	G	2: 172,997,018 (GRCm39)	A220G	probably benign	Het
Pigq	G	A	17: 26,156,233 (GRCm39)	T65I	probably damaging	Het
Pld2	T	C	11: 70,431,696 (GRCm39)	F9L	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pnkd	A	G	1: 74,386,602 (GRCm39)	R138G	possibly damaging	Het
Ralgapa1	A	T	12: 55,781,881 (GRCm39)	I781N	probably damaging	Het
Ranbp2	A	G	10: 58,328,719 (GRCm39)	I2873V	probably benign	Het
Rpn2	C	A	2: 157,139,458 (GRCm39)	Q283K	probably benign	Het
Shmt2	A	G	10: 127,355,561 (GRCm39)	S178P	possibly damaging	Het
Shroom3	A	G	5: 93,112,401 (GRCm39)	K1921E	probably benign	Het
Slc20a1	A	G	2: 129,051,142 (GRCm39)	S600G	probably damaging	Het
Slco1a7	A	G	6: 141,668,830 (GRCm39)	V534A	possibly damaging	Het
Slit1	C	T	19: 41,594,951 (GRCm39)	V1140I	probably benign	Het
Sncg	T	C	14: 34,095,640 (GRCm39)	S51G	possibly damaging	Het
Spon2	C	A	5: 33,372,935 (GRCm39)	D256Y	possibly damaging	Het
Srcap	G	T	7: 127,159,874 (GRCm39)	R3250L	unknown	Het
Sun1	T	G	5: 139,231,121 (GRCm39)	Y763*	probably null	Het
Synj1	A	T	16: 90,735,513 (GRCm39)	F1480Y	probably benign	Het
Tbc1d30	T	A	10: 121,132,716 (GRCm39)	N216I	probably damaging	Het
Tent2	A	T	13: 93,284,160 (GRCm39)	L465*	probably null	Het
Tgfb1	A	T	7: 25,388,580 (GRCm39)	K39*	probably null	Het
Tmem87a	A	G	2: 120,224,841 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,056,966 (GRCm39)	I42V	probably benign	Het
Trpc2	A	G	7: 101,745,090 (GRCm39)	T769A	possibly damaging	Het
Ttc3	A	G	16: 94,236,389 (GRCm39)	T1033A	probably benign	Het
Ttll13	C	T	7: 79,906,751 (GRCm39)	A473V	probably damaging	Het
U2surp	G	A	9: 95,346,468 (GRCm39)	R908*	probably null	Het
Ube2s	A	G	7: 4,814,510 (GRCm39)	Y17H	probably damaging	Het
Vmn1r94	A	T	7: 19,901,509 (GRCm39)	M265K	probably benign	Het
Vmn2r23	T	C	6: 123,719,038 (GRCm39)	I797T	possibly damaging	Het
Yipf3	A	T	17: 46,559,895 (GRCm39)	E70D	probably benign	Het
Zcchc14	G	A	8: 122,331,969 (GRCm39)	P465S	unknown	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp707	T	C	15: 75,845,468 (GRCm39)	S111P		Het
Zfp738	T	C	13: 67,819,457 (GRCm39)	E178G	possibly damaging	Het
Zfr	A	T	15: 12,136,757 (GRCm39)	N138I	unknown	Het

Other mutations in Tmem8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Tmem8b	APN	4	43,689,434 (GRCm39)	missense	probably benign	0.15
IGL02677:Tmem8b	APN	4	43,686,092 (GRCm39)	missense	probably damaging	1.00
IGL03090:Tmem8b	APN	4	43,689,721 (GRCm39)	missense	probably damaging	0.99
IGL03379:Tmem8b	APN	4	43,685,561 (GRCm39)	missense	probably benign	0.42
R0321:Tmem8b	UTSW	4	43,674,444 (GRCm39)	missense	probably damaging	1.00
R0377:Tmem8b	UTSW	4	43,674,005 (GRCm39)	missense	probably damaging	1.00
R0456:Tmem8b	UTSW	4	43,685,618 (GRCm39)	missense	probably benign	0.04
R0629:Tmem8b	UTSW	4	43,669,896 (GRCm39)	splice site	probably null
R0646:Tmem8b	UTSW	4	43,690,123 (GRCm39)	missense	probably benign	0.01
R0690:Tmem8b	UTSW	4	43,674,562 (GRCm39)	missense	possibly damaging	0.69
R1484:Tmem8b	UTSW	4	43,690,234 (GRCm39)	missense	probably benign	0.01
R1558:Tmem8b	UTSW	4	43,681,134 (GRCm39)	missense	possibly damaging	0.95
R1733:Tmem8b	UTSW	4	43,690,228 (GRCm39)	splice site	probably null
R1999:Tmem8b	UTSW	4	43,681,300 (GRCm39)	missense	probably damaging	0.99
R2414:Tmem8b	UTSW	4	43,673,892 (GRCm39)	splice site	probably benign
R3799:Tmem8b	UTSW	4	43,673,892 (GRCm39)	splice site	probably benign
R3820:Tmem8b	UTSW	4	43,689,745 (GRCm39)	missense	probably damaging	0.99
R3821:Tmem8b	UTSW	4	43,689,745 (GRCm39)	missense	probably damaging	0.99
R4581:Tmem8b	UTSW	4	43,685,760 (GRCm39)	missense	probably damaging	1.00
R4852:Tmem8b	UTSW	4	43,689,713 (GRCm39)	missense	probably damaging	0.99
R5214:Tmem8b	UTSW	4	43,673,992 (GRCm39)	missense	probably benign	0.09
R5311:Tmem8b	UTSW	4	43,673,992 (GRCm39)	missense	probably benign	0.09
R5448:Tmem8b	UTSW	4	43,673,992 (GRCm39)	missense	probably benign	0.09
R5449:Tmem8b	UTSW	4	43,673,992 (GRCm39)	missense	probably benign	0.09
R5450:Tmem8b	UTSW	4	43,673,992 (GRCm39)	missense	probably benign	0.09
R6245:Tmem8b	UTSW	4	43,690,246 (GRCm39)	missense	probably benign	0.14
R6615:Tmem8b	UTSW	4	43,682,249 (GRCm39)	missense	probably damaging	1.00
R6693:Tmem8b	UTSW	4	43,669,837 (GRCm39)	missense	probably benign	0.00
R6944:Tmem8b	UTSW	4	43,674,465 (GRCm39)	missense	probably damaging	1.00
R6994:Tmem8b	UTSW	4	43,690,192 (GRCm39)	missense	probably damaging	0.96
R7136:Tmem8b	UTSW	4	43,669,845 (GRCm39)	missense	possibly damaging	0.83
R7704:Tmem8b	UTSW	4	43,689,461 (GRCm39)	missense	probably damaging	0.96
R8048:Tmem8b	UTSW	4	43,689,476 (GRCm39)	missense	possibly damaging	0.92
R8064:Tmem8b	UTSW	4	43,690,139 (GRCm39)	missense	probably damaging	1.00
R9293:Tmem8b	UTSW	4	43,686,188 (GRCm39)	missense	probably damaging	1.00
R9447:Tmem8b	UTSW	4	43,685,766 (GRCm39)	missense	probably damaging	1.00
R9491:Tmem8b	UTSW	4	43,673,938 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmem8b	UTSW	4	43,689,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACACTCCCAACTTGGCAG -3'
(R):5'- GAGAAGGTATCCAGCTCATTGC -3'

Sequencing Primer
(F):5'- ACTAGGAAATATCTGGGCCCTGC -3'
(R):5'- TCATTGCGCAGAGTCGGAC -3'

Posted On

2022-01-20