Mutagenetix > Incidental Mutation

Incidental Mutation 'R6245:Tmem8b'

505511

Institutional Source

Beutler Lab

Gene Symbol

Tmem8b

Ensembl Gene

ENSMUSG00000078716

Gene Name

transmembrane protein 8B

Synonyms

4930500O05Rik

MMRRC Submission

044403-MU

Accession Numbers

Essential gene?

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

Stock #

R6245 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

43668971-43692668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43690246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 894 (V894I)

Ref Sequence

ENSEMBL: ENSMUSP00000103498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055545] [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]

AlphaFold

B1AWJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000055545

SMART Domains

Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	9.6e-51	PFAM
Pfam:7tm_1	41	289	3.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107864
AA Change: V435I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: V435I

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
AA Change: V435I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: V435I

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: V894I

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: V894I

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

probably benign
Transcript: ENSMUST00000167153
AA Change: V435I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: V435I

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

noncoding transcript
Transcript: ENSMUST00000158322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154112

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,026,249 (GRCm39)	I937T	probably damaging	Het
Adgrl3	T	A	5: 81,836,403 (GRCm39)	N720K	probably benign	Het
Akr1c21	T	G	13: 4,625,231 (GRCm39)	V54G	possibly damaging	Het
Alpi	G	T	1: 87,028,556 (GRCm39)	D111E	probably damaging	Het
Armc3	C	T	2: 19,253,516 (GRCm39)	T219M	probably damaging	Het
Bms1	T	A	6: 118,373,797 (GRCm39)	E780V	probably damaging	Het
Ccdc159	T	C	9: 21,846,864 (GRCm39)	S244P	probably damaging	Het
Cdon	T	C	9: 35,388,235 (GRCm39)	W737R	probably damaging	Het
Chdh	T	A	14: 29,757,262 (GRCm39)	V395D	probably damaging	Het
Col22a1	C	A	15: 71,845,665 (GRCm39)	D366Y	probably damaging	Het
Cplane1	T	C	15: 8,207,902 (GRCm39)	Y218H	probably benign	Het
Crnkl1	T	A	2: 145,770,051 (GRCm39)	N264I	probably benign	Het
Ctnnd2	T	C	15: 30,905,894 (GRCm39)	L847P	probably damaging	Het
Cyp4a31	A	C	4: 115,428,545 (GRCm39)	T382P	possibly damaging	Het
Dcaf8	A	T	1: 171,993,434 (GRCm39)	M1L	probably benign	Het
Ddx31	T	A	2: 28,734,994 (GRCm39)	F52I	probably benign	Het
Dynlt5	A	G	4: 102,845,864 (GRCm39)	N32S	probably benign	Het
Efcab3	A	T	11: 104,675,834 (GRCm39)	Y1542F	probably benign	Het
Eps15	G	A	4: 109,240,063 (GRCm39)	S852N	possibly damaging	Het
Fchsd1	A	T	18: 38,095,828 (GRCm39)	L552Q	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Frem2	T	C	3: 53,563,245 (GRCm39)	M421V	probably benign	Het
Gm1110	T	G	9: 26,832,043 (GRCm39)	H36P	probably benign	Het
Hadha	C	T	5: 30,325,042 (GRCm39)		probably null	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Intu	C	A	3: 40,629,756 (GRCm39)	T362K	probably damaging	Het
Jaml	C	T	9: 45,009,217 (GRCm39)	T248I	probably damaging	Het
Kcnj1	A	T	9: 32,308,163 (GRCm39)	S176C	probably damaging	Het
Kcnj9	A	G	1: 172,153,704 (GRCm39)	L140P	probably damaging	Het
Kif7	T	C	7: 79,351,891 (GRCm39)	K957R	probably damaging	Het
Klc4	T	A	17: 46,947,605 (GRCm39)	I366F	probably damaging	Het
Lamb2	A	G	9: 108,365,398 (GRCm39)		probably null	Het
Madd	T	C	2: 91,008,449 (GRCm39)	D151G	probably benign	Het
Man2a1	C	A	17: 65,017,821 (GRCm39)	A689E	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Msmp	T	C	4: 43,583,909 (GRCm39)	Y48C	probably damaging	Het
Muc6	T	C	7: 141,235,086 (GRCm39)	N567S	probably damaging	Het
Nrap	A	G	19: 56,342,653 (GRCm39)	Y748H	probably damaging	Het
Nrap	C	T	19: 56,368,307 (GRCm39)	A192T	possibly damaging	Het
Or2p2	T	A	13: 21,256,860 (GRCm39)	T204S	possibly damaging	Het
Or2y14	T	A	11: 49,404,992 (GRCm39)	F176I	possibly damaging	Het
Or5w15	G	C	2: 87,568,240 (GRCm39)	Q143E	possibly damaging	Het
Pcdhb8	T	G	18: 37,490,222 (GRCm39)	D633E	possibly damaging	Het
Pcdhb9	G	A	18: 37,536,207 (GRCm39)	V734M	probably damaging	Het
Plscr1	T	C	9: 92,141,374 (GRCm39)	Y21H	unknown	Het
Ptk2b	G	T	14: 66,400,515 (GRCm39)	P767T	probably damaging	Het
Ptprz1	T	C	6: 23,051,989 (GRCm39)	Y1424H	probably damaging	Het
Sec31a	T	A	5: 100,534,043 (GRCm39)	Q118L	probably benign	Het
Selenop	A	G	15: 3,304,216 (GRCm39)	S21G	probably damaging	Het
Shank1	G	A	7: 44,001,677 (GRCm39)	S1132N	unknown	Het
Slf1	A	G	13: 77,232,502 (GRCm39)	L534P	probably damaging	Het
Sparcl1	T	A	5: 104,233,013 (GRCm39)	H596L	probably damaging	Het
Spocd1	C	T	4: 129,850,901 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,967 (GRCm39)	I59N	probably damaging	Het
Tjp3	G	A	10: 81,113,110 (GRCm39)	T580I	probably benign	Het
Tmem154	C	T	3: 84,591,603 (GRCm39)	T51M	possibly damaging	Het
Trbv20	A	T	6: 41,165,840 (GRCm39)	L88F	possibly damaging	Het
Tssk2	A	C	16: 17,716,812 (GRCm39)	I72L	possibly damaging	Het
Tub	T	A	7: 108,626,265 (GRCm39)	I267N	probably damaging	Het
Vmn2r104	A	T	17: 20,261,829 (GRCm39)	F434I	possibly damaging	Het
Vmn2r42	T	C	7: 8,195,733 (GRCm39)	N471S	probably damaging	Het
Vmn2r94	C	G	17: 18,478,385 (GRCm39)	G121R	probably damaging	Het
Wdr72	T	C	9: 74,055,505 (GRCm39)	S245P	probably damaging	Het
Zbtb42	A	G	12: 112,645,969 (GRCm39)	Y48C	probably damaging	Het
Zdbf2	T	C	1: 63,343,592 (GRCm39)	V657A	possibly damaging	Het
Zfp768	A	T	7: 126,943,263 (GRCm39)	C288*	probably null	Het
Zfp988	T	A	4: 147,416,470 (GRCm39)	C301*	probably null	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
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'- CACTGTTACCCACCGACATG -3'
(R):5'- CTACTTGTCCCTGTACCTAGGTGG -3'

Sequencing Primer
(F):5'- ACTCGGGACAACTACTTC -3'
(R):5'- TGTACCTAGGTGGGCTCC -3'

Posted On

2018-02-28