Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Tmem135'

672061

Institutional Source

Beutler Lab

Gene Symbol

Tmem135

Ensembl Gene

ENSMUSG00000039428

Gene Name

transmembrane protein 135

Synonyms

2810439K08Rik

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88788922-89053430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 88797186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 357 (L357V)

Ref Sequence

ENSEMBL: ENSMUSP00000042783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041968] [ENSMUST00000117852]

AlphaFold

Q9CYV5

Predicted Effect

probably benign
Transcript: ENSMUST00000041968
AA Change: L357V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: L357V

Domain	Start	End	E-Value	Type
Pfam:TMEM135_C_rich	9	142	2.2e-84	PFAM
transmembrane domain	147	169	N/A	INTRINSIC
Pfam:Tim17	249	370	1.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117852
AA Change: L357V

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
AA Change: L357V

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	96	115	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	299	321	N/A	INTRINSIC
transmembrane domain	331	353	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	Het

Other mutations in Tmem135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Tmem135	APN	7	88,800,646 (GRCm39)	missense	probably damaging	1.00
IGL01730:Tmem135	APN	7	88,797,252 (GRCm39)	missense	possibly damaging	0.82
IGL01933:Tmem135	APN	7	88,793,065 (GRCm39)	unclassified	probably benign
IGL02177:Tmem135	APN	7	88,987,661 (GRCm39)	missense	probably damaging	1.00
IGL02305:Tmem135	APN	7	88,814,331 (GRCm39)	critical splice donor site	probably null
IGL02747:Tmem135	APN	7	88,793,878 (GRCm39)	missense	probably damaging	0.98
IGL02801:Tmem135	APN	7	88,803,333 (GRCm39)	missense	probably benign	0.13
IGL03353:Tmem135	APN	7	88,791,161 (GRCm39)	missense	probably damaging	1.00
Skim	UTSW	7	88,845,335 (GRCm39)	nonsense	probably null
R0631:Tmem135	UTSW	7	88,792,996 (GRCm39)	nonsense	probably null
R0657:Tmem135	UTSW	7	88,793,890 (GRCm39)	missense	probably damaging	0.96
R2233:Tmem135	UTSW	7	88,803,282 (GRCm39)	missense	probably damaging	1.00
R3118:Tmem135	UTSW	7	88,797,005 (GRCm39)	missense	probably benign	0.02
R3119:Tmem135	UTSW	7	88,797,005 (GRCm39)	missense	probably benign	0.02
R5094:Tmem135	UTSW	7	88,793,001 (GRCm39)	missense	probably damaging	1.00
R5225:Tmem135	UTSW	7	88,845,335 (GRCm39)	nonsense	probably null
R5248:Tmem135	UTSW	7	88,797,200 (GRCm39)	missense	probably damaging	1.00
R5356:Tmem135	UTSW	7	88,954,723 (GRCm39)	missense	probably benign	0.06
R5372:Tmem135	UTSW	7	88,814,382 (GRCm39)	splice site	probably null
R5442:Tmem135	UTSW	7	88,793,872 (GRCm39)	missense	probably damaging	1.00
R5789:Tmem135	UTSW	7	88,845,330 (GRCm39)	missense	possibly damaging	0.73
R5863:Tmem135	UTSW	7	88,797,176 (GRCm39)	critical splice donor site	probably null
R6158:Tmem135	UTSW	7	88,805,652 (GRCm39)	missense	probably benign	0.12
R6383:Tmem135	UTSW	7	88,793,878 (GRCm39)	missense	probably damaging	0.98
R6416:Tmem135	UTSW	7	88,797,002 (GRCm39)	missense	probably benign
R6659:Tmem135	UTSW	7	88,956,372 (GRCm39)	nonsense	probably null
R6659:Tmem135	UTSW	7	88,956,371 (GRCm39)	missense	probably benign	0.07
R6731:Tmem135	UTSW	7	88,893,172 (GRCm39)	missense	possibly damaging	0.96
R7545:Tmem135	UTSW	7	88,954,727 (GRCm39)	missense	probably damaging	1.00
R7626:Tmem135	UTSW	7	88,805,718 (GRCm39)	splice site	probably null
R8089:Tmem135	UTSW	7	88,805,703 (GRCm39)	missense	probably damaging	0.99
R8447:Tmem135	UTSW	7	88,803,240 (GRCm39)	missense	probably damaging	1.00
R8703:Tmem135	UTSW	7	88,808,170 (GRCm39)	missense	probably benign	0.00
R8750:Tmem135	UTSW	7	88,956,456 (GRCm39)	missense	probably damaging	0.99
R8758:Tmem135	UTSW	7	88,954,721 (GRCm39)	missense	probably benign	0.04
R8807:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R8808:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R8835:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R8836:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R9093:Tmem135	UTSW	7	88,797,204 (GRCm39)	missense	probably benign	0.02
R9120:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R9122:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R9308:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R9649:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25
R9650:Tmem135	UTSW	7	88,797,186 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CTCATGGGCATGGTGGATTC -3'
(R):5'- GTGAATTCTCCCTATAGCCAACG -3'

Sequencing Primer
(F):5'- GATTCTGTGTTTTTCTGTGTAAAGG -3'
(R):5'- ATTCTCCCTATAGCCAACGAGTATG -3'

Posted On

2021-04-30