Mutagenetix > Incidental Mutation

Incidental Mutation 'R5949:Tmem106b'

472317

Institutional Source

Beutler Lab

Gene Symbol

Tmem106b

Ensembl Gene

ENSMUSG00000029571

Gene Name

transmembrane protein 106B

Synonyms

2310036D22Rik, 5830455K21Rik, 6430519M21Rik

MMRRC Submission

044139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5949 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

13069758-13089268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13083418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 229 (M229K)

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: M229K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031556
Gene: ENSMUSG00000029571
AA Change: M229K

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

Meta Mutation Damage Score

0.5854

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,032 (GRCm39)	Y1452C	probably damaging	Het
Adcy10	A	T	1: 165,367,386 (GRCm39)	H552L	possibly damaging	Het
Alms1-ps1	A	T	6: 85,698,943 (GRCm39)		noncoding transcript	Het
Arhgap21	A	G	2: 20,853,852 (GRCm39)	S1837P	probably damaging	Het
Atad5	G	T	11: 79,986,835 (GRCm39)	E641*	probably null	Het
Atp8b4	T	A	2: 126,247,242 (GRCm39)	T276S	probably benign	Het
Bptf	A	G	11: 107,001,915 (GRCm39)	I399T	probably damaging	Het
Carf	A	C	1: 60,178,472 (GRCm39)	K295T	probably damaging	Het
Cd209d	T	A	8: 3,927,949 (GRCm39)	N52Y	possibly damaging	Het
Cdh2	T	A	18: 16,734,687 (GRCm39)	I779F	probably damaging	Het
Cdon	G	A	9: 35,398,247 (GRCm39)	R988H	probably benign	Het
Cfhr4	A	T	1: 139,660,887 (GRCm39)	H600Q	probably damaging	Het
Cic	C	T	7: 24,971,730 (GRCm39)	T487M	probably damaging	Het
Dcps	A	G	9: 35,036,557 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,679,874 (GRCm39)	C427R	probably damaging	Het
Diras2	T	C	13: 52,661,747 (GRCm39)	K187E	possibly damaging	Het
Emb	A	G	13: 117,403,928 (GRCm39)	I227V	probably benign	Het
Fam193a	T	A	5: 34,597,816 (GRCm39)	S538T	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Galnt6	A	T	15: 100,594,431 (GRCm39)	N533K	probably damaging	Het
Grip1	A	G	10: 119,886,147 (GRCm39)	D499G	probably benign	Het
Ifih1	T	C	2: 62,440,904 (GRCm39)	N421D	probably benign	Het
Ifng	G	C	10: 118,278,529 (GRCm39)	M63I	probably benign	Het
Ighv1-43	A	G	12: 114,910,002 (GRCm39)	M1T	probably null	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt87	A	T	15: 101,385,476 (GRCm39)	C299S	probably damaging	Het
Lrrn1	G	T	6: 107,544,465 (GRCm39)	V88L	probably benign	Het
Mapkapk2	A	G	1: 130,985,742 (GRCm39)	V173A	possibly damaging	Het
Mrap2	T	G	9: 87,064,658 (GRCm39)	V133G	probably benign	Het
Nlrp1a	T	A	11: 70,989,815 (GRCm39)	D984V	probably damaging	Het
Or4c125	A	G	2: 89,170,229 (GRCm39)	V139A	probably damaging	Het
Or5p59	T	C	7: 107,703,404 (GRCm39)	L296P	probably damaging	Het
Pcdh17	T	C	14: 84,684,996 (GRCm39)	Y488H	probably damaging	Het
Pih1d2	C	T	9: 50,536,284 (GRCm39)	P313L	probably damaging	Het
Ralgapb	T	C	2: 158,296,179 (GRCm39)	C839R	probably damaging	Het
Rdh5	C	A	10: 128,754,136 (GRCm39)	R29L	probably benign	Het
Rfx6	A	G	10: 51,554,429 (GRCm39)	D90G	probably benign	Het
Rnf213	A	G	11: 119,333,905 (GRCm39)	Y3038C	probably damaging	Het
Sec14l2	A	T	11: 4,058,972 (GRCm39)	V191D	probably damaging	Het
Slc3a2	T	C	19: 8,690,759 (GRCm39)	Y118C	probably damaging	Het
Sorbs2	T	C	8: 46,222,934 (GRCm39)		probably null	Het
Stab2	A	G	10: 86,805,713 (GRCm39)	L211P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,038,876 (GRCm39)	C289R	probably benign	Het
Tfpi	T	C	2: 84,275,092 (GRCm39)	E172G	probably benign	Het
Tsfm	G	A	10: 126,864,244 (GRCm39)	T157M	probably damaging	Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ttn	G	A	2: 76,608,244 (GRCm39)	A17893V	possibly damaging	Het
Vps39	A	G	2: 120,159,149 (GRCm39)	Y380H	probably benign	Het
Xylt2	G	A	11: 94,559,309 (GRCm39)	R383C	probably damaging	Het
Zfp719	C	T	7: 43,233,541 (GRCm39)		probably benign	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
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
R8457: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'- TTTCTGCGGCCAACATAGGG -3'
(R):5'- TGAACTCCTACAATCTCTGCAG -3'

Sequencing Primer
(F):5'- CGGCCAACATAGGGAGATTTCATC -3'
(R):5'- ACAATCTCTGCAGGCTTTTAATC -3'

Posted On

2017-03-31