Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Tmub2'

101363

Institutional Source

Beutler Lab

Gene Symbol

Tmub2

Ensembl Gene

ENSMUSG00000034757

Gene Name

transmembrane and ubiquitin-like domain containing 2

Synonyms

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1168 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

102284931-102289237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102287370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 33 (G33D)

Ref Sequence

ENSEMBL: ENSMUSP00000116327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036376] [ENSMUST00000073234] [ENSMUST00000107132] [ENSMUST00000107134] [ENSMUST00000137387] [ENSMUST00000156326]

AlphaFold

Q3V209

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036376
AA Change: G33D

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757
AA Change: G33D

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
UBQ	173	242	1.75e-9	SMART
transmembrane domain	264	286	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073234

SMART Domains

Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.3e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	202	239	8.8e-10	PFAM
low complexity region	275	288	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000100387
AA Change: G71D

SMART Domains

Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
AA Change: G71D

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
UBQ	212	281	1.75e-9	SMART
transmembrane domain	303	325	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107132

SMART Domains

Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.1e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	209	246	7.8e-11	PFAM
low complexity region	282	295	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC
low complexity region	335	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107134

SMART Domains

Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995

Domain	Start	End	E-Value	Type
Pfam:Sgf11	80	112	1.3e-21	PFAM
low complexity region	135	143	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
Pfam:SCA7	202	239	8.8e-10	PFAM
low complexity region	275	288	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135551

Predicted Effect

probably benign
Transcript: ENSMUST00000137387

SMART Domains

Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995

Domain	Start	End	E-Value	Type
Pfam:Sgf11	76	108	2.6e-21	PFAM
low complexity region	131	139	N/A	INTRINSIC
low complexity region	146	155	N/A	INTRINSIC
Pfam:SCA7	205	242	1.9e-9	PFAM
low complexity region	278	291	N/A	INTRINSIC
low complexity region	305	319	N/A	INTRINSIC
low complexity region	331	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141516

SMART Domains

Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	27	35	N/A	INTRINSIC
low complexity region	42	51	N/A	INTRINSIC
Pfam:SCA7	113	150	6.7e-11	PFAM
low complexity region	186	199	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
low complexity region	239	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156077

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156326
AA Change: G33D

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757
AA Change: G33D

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
UBQ	173	242	1.75e-9	SMART
transmembrane domain	264	286	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a predicted multi-pass membrane protein that features a C-terminal ubiquitin-related domain. This gene may be expressed in cone photoreceptors in the retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900 (GRCm38)	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939 (GRCm38)	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199 (GRCm38)	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532 (GRCm38)	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837 (GRCm38)	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631 (GRCm38)		probably null	Het
Alpk3	A	T	7: 81,103,357 (GRCm38)	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396 (GRCm38)	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501 (GRCm38)	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944 (GRCm38)	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014 (GRCm38)	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697 (GRCm38)	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920 (GRCm38)	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450 (GRCm38)	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138 (GRCm38)	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817 (GRCm38)	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454 (GRCm38)	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523 (GRCm38)	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678 (GRCm38)	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246 (GRCm38)	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469 (GRCm38)	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688 (GRCm38)	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997 (GRCm38)	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355 (GRCm38)	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364 (GRCm38)	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950 (GRCm38)		probably benign	Het
Gorasp2	C	T	2: 70,688,400 (GRCm38)	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160 (GRCm38)	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152 (GRCm38)	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676 (GRCm38)	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551 (GRCm38)	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753 (GRCm38)	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312 (GRCm38)	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974 (GRCm38)	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312 (GRCm38)	R427C	probably benign	Het
Map4	T	C	9: 110,034,964 (GRCm38)	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132 (GRCm38)	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931 (GRCm38)	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914 (GRCm38)	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334 (GRCm38)	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812 (GRCm38)	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968 (GRCm38)	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301 (GRCm38)	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684 (GRCm38)	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869 (GRCm38)	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617 (GRCm38)	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421 (GRCm38)	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727 (GRCm38)	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271 (GRCm38)	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767 (GRCm38)	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072 (GRCm38)	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537 (GRCm38)	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645 (GRCm38)	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047 (GRCm38)	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558 (GRCm38)	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296 (GRCm38)	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860 (GRCm38)	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475 (GRCm38)	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278 (GRCm38)	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936 (GRCm38)	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134 (GRCm38)	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742 (GRCm38)	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563 (GRCm38)	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019 (GRCm38)	V730F	probably damaging	Het
Trak1	G	A	9: 121,440,679 (GRCm38)	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111 (GRCm38)	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369 (GRCm38)	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842 (GRCm38)	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,678,411 (GRCm38)	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321 (GRCm38)	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854 (GRCm38)	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219 (GRCm38)	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174 (GRCm38)	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408 (GRCm38)	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501 (GRCm38)	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697 (GRCm38)	E290G	probably benign	Het

Other mutations in Tmub2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Tmub2	UTSW	11	102,288,375 (GRCm38)	splice site	probably null
R0332:Tmub2	UTSW	11	102,288,348 (GRCm38)	missense	probably damaging	1.00
R1530:Tmub2	UTSW	11	102,287,486 (GRCm38)	missense	probably benign	0.01
R2141:Tmub2	UTSW	11	102,287,553 (GRCm38)	missense	possibly damaging	0.89
R2420:Tmub2	UTSW	11	102,287,755 (GRCm38)	missense	probably benign
R2421:Tmub2	UTSW	11	102,287,755 (GRCm38)	missense	probably benign
R3717:Tmub2	UTSW	11	102,285,061 (GRCm38)	unclassified	probably benign
R4660:Tmub2	UTSW	11	102,285,019 (GRCm38)	unclassified	probably benign
R5238:Tmub2	UTSW	11	102,284,994 (GRCm38)	unclassified	probably benign
R5444:Tmub2	UTSW	11	102,288,240 (GRCm38)	missense	possibly damaging	0.80
R6590:Tmub2	UTSW	11	102,287,519 (GRCm38)	missense	probably damaging	1.00
R6690:Tmub2	UTSW	11	102,287,519 (GRCm38)	missense	probably damaging	1.00
R9213:Tmub2	UTSW	11	102,287,649 (GRCm38)	missense
R9569:Tmub2	UTSW	11	102,288,327 (GRCm38)	nonsense	probably null
R9572:Tmub2	UTSW	11	102,285,715 (GRCm38)	missense
R9735:Tmub2	UTSW	11	102,287,526 (GRCm38)	missense

Predicted Primers

Posted On

2014-01-15