Mutagenetix > Incidental Mutation

Incidental Mutation 'R1999:Tmem8b'

224692

Institutional Source

Beutler Lab

Gene Symbol

Tmem8b

Ensembl Gene

ENSMUSG00000078716

Gene Name

transmembrane protein 8B

Synonyms

4930500O05Rik

MMRRC Submission

040009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43668971-43692668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43681300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 439 (C439Y)

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 damaging
Transcript: ENSMUST00000107866
AA Change: C439Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: C439Y

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

noncoding transcript
Transcript: ENSMUST00000134869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141864

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

noncoding transcript
Transcript: ENSMUST00000143774

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adprm	A	G	11: 66,929,055 (GRCm39)	V312A	probably benign	Het
Ambp	C	T	4: 63,067,666 (GRCm39)	M181I	possibly damaging	Het
Anln	A	G	9: 22,244,348 (GRCm39)	*1122Q	probably null	Het
Apc2	C	T	10: 80,144,994 (GRCm39)	T635I	probably damaging	Het
Arhgap32	A	G	9: 32,027,436 (GRCm39)	E2G	possibly damaging	Het
Bltp1	C	T	3: 36,962,360 (GRCm39)	T487I	probably damaging	Het
Ccdc63	C	G	5: 122,265,628 (GRCm39)	A71P	possibly damaging	Het
Ceacam5	A	T	7: 17,481,172 (GRCm39)	K306N	possibly damaging	Het
Cep295nl	T	C	11: 118,223,915 (GRCm39)	R310G	probably damaging	Het
Ces2h	A	G	8: 105,746,977 (GRCm39)	T538A	probably benign	Het
Dab2	T	C	15: 6,446,398 (GRCm39)	V5A	probably benign	Het
Diaph3	T	A	14: 87,222,302 (GRCm39)	D405V	possibly damaging	Het
Dync1h1	T	C	12: 110,632,857 (GRCm39)		probably null	Het
Epha7	C	T	4: 28,938,686 (GRCm39)	Q514*	probably null	Het
Etfb	C	T	7: 43,103,987 (GRCm39)	L141F	probably benign	Het
Fat1	T	C	8: 45,405,430 (GRCm39)	V727A	probably damaging	Het
Flt4	T	C	11: 49,536,824 (GRCm39)	Y1265H	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Ghdc	T	C	11: 100,660,018 (GRCm39)	E243G	probably benign	Het
Gpld1	T	C	13: 25,146,630 (GRCm39)	V225A	probably benign	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Itgb7	C	T	15: 102,130,553 (GRCm39)	V378M	probably damaging	Het
Kcnq5	T	C	1: 21,472,428 (GRCm39)	S811G	probably null	Het
Kcnt1	T	A	2: 25,782,372 (GRCm39)	H156Q	probably benign	Het
Kif1a	T	C	1: 92,988,517 (GRCm39)	N507S	probably damaging	Het
Krt84	T	C	15: 101,438,019 (GRCm39)	E312G	possibly damaging	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Medag	T	A	5: 149,350,717 (GRCm39)	F64Y	probably damaging	Het
Mtmr6	T	A	14: 60,530,856 (GRCm39)	S331R	probably damaging	Het
Myh1	A	C	11: 67,113,234 (GRCm39)	D1873A	probably benign	Het
Nek9	A	G	12: 85,376,677 (GRCm39)	W235R	probably damaging	Het
Nomo1	T	C	7: 45,706,151 (GRCm39)	S502P	possibly damaging	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or8k30	T	A	2: 86,339,089 (GRCm39)	Y95*	probably null	Het
Otof	T	A	5: 30,546,116 (GRCm39)	E427D	probably benign	Het
Pclo	T	C	5: 14,727,094 (GRCm39)		probably benign	Het
Pkhd1l1	T	G	15: 44,363,378 (GRCm39)		probably null	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad21l	T	C	2: 151,496,621 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,589,575 (GRCm39)	V459A	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp1	C	T	15: 97,956,196 (GRCm39)	V408I	possibly damaging	Het
Slc44a5	T	C	3: 153,964,130 (GRCm39)	F499L	possibly damaging	Het
Slitrk3	C	T	3: 72,957,297 (GRCm39)	V492I	probably benign	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,945,713 (GRCm39)	D915V	possibly damaging	Het
Stard9	A	G	2: 120,523,349 (GRCm39)	D668G	probably damaging	Het
Sycp2l	A	G	13: 41,271,780 (GRCm39)	D73G	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Vmn1r195	C	G	13: 22,462,934 (GRCm39)	L135V	possibly damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,696,883 (GRCm39)	I647F	probably damaging	Het
Zfp956	G	A	6: 47,940,805 (GRCm39)	R388H	probably damaging	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
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
R9124:Tmem8b	UTSW	4	43,681,982 (GRCm39)	missense	probably benign	0.23
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'- TGCCAAGCTTCACCTACAGG -3'
(R):5'- GTGACCTGAAGCTCCAAAGAG -3'

Sequencing Primer
(F):5'- AGGGGCATCTGTCTGTCC -3'
(R):5'- CTCCAAAGAGCTGGGACCTTAG -3'

Posted On

2014-08-25