Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Tmub2'

427353

Institutional Source

Beutler Lab

Gene Symbol

Tmub2

Ensembl Gene

ENSMUSG00000034757

Gene Name

transmembrane and ubiquitin-like domain containing 2

Synonyms

2010008E23Rik

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102175757-102180063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102179066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 255 (L255S)

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: L255S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757
AA Change: L255S

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

probably benign
Transcript: ENSMUST00000100387
AA Change: L293S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
AA Change: L293S

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

possibly damaging
Transcript: ENSMUST00000156326
AA Change: L255S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757
AA Change: L255S

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

noncoding transcript
Transcript: ENSMUST00000156077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145484

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

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Alg6	A	G	4: 99,629,816 (GRCm39)	Y131C	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Dhdds	G	A	4: 133,698,447 (GRCm39)	R295*	probably null	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Irf7	C	T	7: 140,844,732 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nnat	T	C	2: 157,403,137 (GRCm39)	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or3a4	T	C	11: 73,944,803 (GRCm39)	S261G	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	Het

Other mutations in Tmub2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Tmub2	UTSW	11	102,179,201 (GRCm39)	splice site	probably null
R0332:Tmub2	UTSW	11	102,179,174 (GRCm39)	missense	probably damaging	1.00
R1168:Tmub2	UTSW	11	102,178,196 (GRCm39)	missense	possibly damaging	0.77
R1530:Tmub2	UTSW	11	102,178,312 (GRCm39)	missense	probably benign	0.01
R2141:Tmub2	UTSW	11	102,178,379 (GRCm39)	missense	possibly damaging	0.89
R2420:Tmub2	UTSW	11	102,178,581 (GRCm39)	missense	probably benign
R2421:Tmub2	UTSW	11	102,178,581 (GRCm39)	missense	probably benign
R3717:Tmub2	UTSW	11	102,175,887 (GRCm39)	unclassified	probably benign
R4660:Tmub2	UTSW	11	102,175,845 (GRCm39)	unclassified	probably benign
R5238:Tmub2	UTSW	11	102,175,820 (GRCm39)	unclassified	probably benign
R6590:Tmub2	UTSW	11	102,178,345 (GRCm39)	missense	probably damaging	1.00
R6690:Tmub2	UTSW	11	102,178,345 (GRCm39)	missense	probably damaging	1.00
R9213:Tmub2	UTSW	11	102,178,475 (GRCm39)	missense
R9569:Tmub2	UTSW	11	102,179,153 (GRCm39)	nonsense	probably null
R9572:Tmub2	UTSW	11	102,176,541 (GRCm39)	missense
R9735:Tmub2	UTSW	11	102,178,352 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CAGGCCTTGATCTCTCTAGC -3'
(R):5'- TCCCAAATACCAGGATGCTGAAG -3'

Sequencing Primer
(F):5'- TTCCTTTCATCCTTGTAGCAAATAC -3'
(R):5'- TGCTGAAGAAGACTGTGACTCC -3'

Posted On

2016-09-01