Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Tmem106b'

445181

Institutional Source

Beutler Lab

Gene Symbol

Tmem106b

Ensembl Gene

ENSMUSG00000029571

Gene Name

transmembrane protein 106B

Synonyms

2310036D22Rik, 5830455K21Rik, 6430519M21Rik

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13069758-13089268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13075041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 76 (E76G)

Ref Sequence

ENSEMBL: ENSMUSP00000123208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031556] [ENSMUST00000122916] [ENSMUST00000124234] [ENSMUST00000142211]

AlphaFold

Q80X71

Predicted Effect

probably damaging
Transcript: ENSMUST00000031556
AA Change: E76G

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

SMART Domains

Protein: ENSMUSP00000031556
Gene: ENSMUSG00000029571
AA Change: E76G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122916
AA Change: E76G

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

SMART Domains

Protein: ENSMUSP00000122107
Gene: ENSMUSG00000029571
AA Change: E76G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124234
AA Change: E76G

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

SMART Domains

Protein: ENSMUSP00000123208
Gene: ENSMUSG00000029571
AA Change: E76G

Domain	Start	End	E-Value	Type
Pfam:DUF1356	14	93	1.7e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136742

Predicted Effect

probably benign
Transcript: ENSMUST00000142211

SMART Domains

Protein: ENSMUSP00000122392
Gene: ENSMUSG00000029571

Domain	Start	End	E-Value	Type
Pfam:DUF1356	14	70	3.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142798

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,419 (GRCm39)	S1203P	probably benign	Het
Adamts1	A	G	16: 85,594,936 (GRCm39)	V341A	possibly damaging	Het
Arf2	G	A	11: 103,874,459 (GRCm39)	G144S	probably benign	Het
Atr	A	G	9: 95,756,455 (GRCm39)	N862D	probably benign	Het
Cep295nl	T	C	11: 118,224,472 (GRCm39)	H124R	possibly damaging	Het
Chd6	C	T	2: 160,825,682 (GRCm39)	V1141I	possibly damaging	Het
Chst5	C	A	8: 112,616,842 (GRCm39)	K259N	probably benign	Het
Dchs1	T	A	7: 105,413,383 (GRCm39)	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,282,792 (GRCm39)	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,316,280 (GRCm39)	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,654,527 (GRCm39)	G1436R	probably damaging	Het
Emp2	T	A	16: 10,102,374 (GRCm39)	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,562,189 (GRCm39)	Q148*	probably null	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fam186b	T	G	15: 99,177,598 (GRCm39)	Y576S	probably benign	Het
Fras1	T	C	5: 96,857,775 (GRCm39)	V2023A	probably benign	Het
Grm5	A	C	7: 87,675,808 (GRCm39)	M441L	probably damaging	Het
Hhatl	A	G	9: 121,617,343 (GRCm39)	Y297H	probably damaging	Het
Ifi30	A	G	8: 71,219,188 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,040 (GRCm39)	N169K	possibly damaging	Het
Kat6a	T	G	8: 23,428,028 (GRCm39)	S1128A	probably benign	Het
Madd	T	C	2: 90,992,420 (GRCm39)	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mfsd5	G	A	15: 102,189,513 (GRCm39)	G295D	possibly damaging	Het
Minar1	A	T	9: 89,483,125 (GRCm39)	N757K	probably benign	Het
Mmp20	T	A	9: 7,628,378 (GRCm39)		probably null	Het
Mybphl	T	C	3: 108,282,070 (GRCm39)	V100A	probably benign	Het
Ndfip2	T	A	14: 105,539,750 (GRCm39)		probably null	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or7e175	T	A	9: 20,049,228 (GRCm39)	V272E	probably benign	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Phf19	T	G	2: 34,787,135 (GRCm39)	D443A	probably damaging	Het
Piezo1	A	G	8: 123,234,394 (GRCm39)	V84A	probably damaging	Het
Septin9	A	G	11: 117,243,094 (GRCm39)	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032 (GRCm39)	V132L	probably benign	Het
Sntg1	G	A	1: 8,484,494 (GRCm39)	S442L	probably benign	Het
Tcf25	A	G	8: 124,108,196 (GRCm39)	T84A	probably benign	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tnk2	C	T	16: 32,499,482 (GRCm39)	P932S	probably benign	Het
Trib1	G	A	15: 59,526,350 (GRCm39)	V307I	probably benign	Het
Trib3	A	T	2: 152,185,215 (GRCm39)	D11E	probably benign	Het
Trim34b	T	C	7: 103,980,640 (GRCm39)	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,905 (GRCm39)	I280T	probably damaging	Het
Zfp1010	A	T	2: 176,956,765 (GRCm39)	C244*	probably null	Het
Zfp445	G	T	9: 122,682,211 (GRCm39)	Q577K	probably benign	Het
Zfp599	T	C	9: 22,160,957 (GRCm39)	K403E	probably 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
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
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'- CAGATTAAAGGATAGTAGAGCCCTC -3'
(R):5'- AGGATGGCATAACTTAACAACCAG -3'

Sequencing Primer
(F):5'- AAAGGATAGTAGAGCCCTCATTATAG -3'
(R):5'- CAACCAGACATATTCTTCTTC -3'

Posted On

2016-11-21