Mutagenetix > Incidental Mutation

Incidental Mutation 'R8457:Tmem106b'

655059

Institutional Source

Beutler Lab

Gene Symbol

Tmem106b

Ensembl Gene

ENSMUSG00000029571

Gene Name

transmembrane protein 106B

Synonyms

2310036D22Rik, 5830455K21Rik, 6430519M21Rik

MMRRC Submission

067834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13069758-13089268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13084243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 249 (Y249C)

Ref Sequence

ENSEMBL: ENSMUSP00000031556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031556] [ENSMUST00000122916]

AlphaFold

Q80X71

Predicted Effect

probably damaging
Transcript: ENSMUST00000031556
AA Change: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031556
Gene: ENSMUSG00000029571
AA Change: Y249C

Domain	Start	End	E-Value	Type
Pfam:DUF1356	28	259	1.6e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122916

SMART Domains

Protein: ENSMUSP00000122107
Gene: ENSMUSG00000029571

Domain	Start	End	E-Value	Type
Pfam:DUF1356	14	186	5.8e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,030,939 (GRCm39)	L813Q	probably damaging	Het
Alpk3	A	G	7: 80,743,066 (GRCm39)	N961S	probably damaging	Het
Arhgap42	A	T	9: 9,016,221 (GRCm39)	S403T	probably benign	Het
Cdkl1	T	C	12: 69,794,112 (GRCm39)	T342A	probably benign	Het
Chd2	T	C	7: 73,096,985 (GRCm39)	E1497G	probably damaging	Het
Cldn11	T	C	3: 31,217,342 (GRCm39)	V170A	probably benign	Het
Cps1	T	A	1: 67,196,013 (GRCm39)	F291I	probably damaging	Het
Cpsf2	T	A	12: 101,968,929 (GRCm39)	S722T	probably damaging	Het
Creld1	T	C	6: 113,468,699 (GRCm39)		probably null	Het
Dgki	T	A	6: 36,827,891 (GRCm39)	E1002V	possibly damaging	Het
Disp3	T	A	4: 148,345,572 (GRCm39)	I423F	possibly damaging	Het
Dysf	T	C	6: 84,165,227 (GRCm39)	V1601A	probably benign	Het
E4f1	G	A	17: 24,665,501 (GRCm39)	A347V	probably benign	Het
Epb41l1	G	A	2: 156,367,171 (GRCm39)	R680Q	probably benign	Het
Fcrl5	T	G	3: 87,351,567 (GRCm39)	S272A	probably damaging	Het
Gbp7	A	T	3: 142,252,133 (GRCm39)	D572V	probably benign	Het
Gm21903	A	T	17: 39,354,211 (GRCm39)	F8I	unknown	Het
Grin2b	A	G	6: 135,709,197 (GRCm39)	S1450P	probably benign	Het
Icos	C	A	1: 61,033,015 (GRCm39)	S71R	probably damaging	Het
Ighv1-13	T	A	12: 114,594,452 (GRCm39)	N51K	unknown	Het
Ighv1-37	C	T	12: 114,860,245 (GRCm39)		probably benign	Het
Il36g	A	G	2: 24,078,661 (GRCm39)	Y87C	probably benign	Het
Irf7	T	C	7: 140,843,194 (GRCm39)	N440D	possibly damaging	Het
Ivns1abp	T	A	1: 151,229,761 (GRCm39)	L150M	probably damaging	Het
Kif16b	A	G	2: 142,553,828 (GRCm39)	I990T	probably damaging	Het
Kif23	A	G	9: 61,834,317 (GRCm39)		probably null	Het
Lca5l	T	G	16: 95,960,908 (GRCm39)	K523T	possibly damaging	Het
Mast3	A	G	8: 71,233,085 (GRCm39)	F1076L	probably benign	Het
Nek11	A	T	9: 105,225,191 (GRCm39)	I107N	probably damaging	Het
Nlrp12	T	C	7: 3,289,435 (GRCm39)	H359R	probably damaging	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Or10q12	A	T	19: 13,745,721 (GRCm39)	N5I	probably benign	Het
Or8g36	A	C	9: 39,422,442 (GRCm39)	N191K	probably benign	Het
Rnf10	C	A	5: 115,410,320 (GRCm39)	K51N	possibly damaging	Het
Scap	G	A	9: 110,210,354 (GRCm39)	G921D	probably benign	Het
Slc6a13	G	A	6: 121,303,063 (GRCm39)		probably null	Het
Tk2	A	T	8: 104,963,450 (GRCm39)	S140T	probably damaging	Het
Ttll5	T	A	12: 85,923,352 (GRCm39)	S276R	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,078 (GRCm39)	V79A	probably benign	Het
Zfp410	T	C	12: 84,374,086 (GRCm39)	V141A	possibly damaging	Het

Other mutations in Tmem106b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Tmem106b	APN	6	13,071,842 (GRCm39)	missense	probably benign
IGL01982:Tmem106b	APN	6	13,071,968 (GRCm39)	unclassified	probably benign
IGL02402:Tmem106b	APN	6	13,081,600 (GRCm39)	missense	possibly damaging	0.92
R0784:Tmem106b	UTSW	6	13,084,252 (GRCm39)	missense	probably damaging	1.00
R1630:Tmem106b	UTSW	6	13,081,540 (GRCm39)	missense	probably benign	0.43
R3958:Tmem106b	UTSW	6	13,081,587 (GRCm39)	missense	probably damaging	1.00
R4516:Tmem106b	UTSW	6	13,075,098 (GRCm39)	missense	probably damaging	1.00
R5315:Tmem106b	UTSW	6	13,081,559 (GRCm39)	missense	probably damaging	1.00
R5759:Tmem106b	UTSW	6	13,075,041 (GRCm39)	missense	probably damaging	1.00
R5949:Tmem106b	UTSW	6	13,083,418 (GRCm39)	missense	probably damaging	1.00
R6179:Tmem106b	UTSW	6	13,084,252 (GRCm39)	missense	probably damaging	1.00
R6935:Tmem106b	UTSW	6	13,081,554 (GRCm39)	missense	possibly damaging	0.91
R6964:Tmem106b	UTSW	6	13,082,422 (GRCm39)	missense	probably benign	0.00
R7142:Tmem106b	UTSW	6	13,081,564 (GRCm39)	missense	probably damaging	1.00
R7380:Tmem106b	UTSW	6	13,078,167 (GRCm39)	missense	probably damaging	0.99
R7694:Tmem106b	UTSW	6	13,078,105 (GRCm39)	missense	probably benign	0.15
R8357:Tmem106b	UTSW	6	13,084,243 (GRCm39)	missense	probably damaging	1.00
R9206:Tmem106b	UTSW	6	13,082,430 (GRCm39)	missense	probably damaging	1.00
R9208:Tmem106b	UTSW	6	13,082,430 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTATGAAGAGAGGACCATATG -3'
(R):5'- AAAGATGTCCTTCTAGGCAGTAC -3'

Sequencing Primer
(F):5'- GAGAGGACCATATGATTCTTTTAAGC -3'
(R):5'- GGCAGTACCTCCTCACTGACAG -3'

Posted On

2020-10-20