Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Tmem62'

194758

Institutional Source

Beutler Lab

Gene Symbol

Tmem62

Ensembl Gene

ENSMUSG00000054484

Gene Name

transmembrane protein 62

Synonyms

B830009D23Rik

MMRRC Submission

039787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1755 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

120807498-120838333 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 120814958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067582] [ENSMUST00000110686] [ENSMUST00000110686] [ENSMUST00000139428]

AlphaFold

Q8BXJ9

Predicted Effect

probably null
Transcript: ENSMUST00000067582

SMART Domains

Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Metallophos	56	261	7.3e-11	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	479	501	N/A	INTRINSIC
transmembrane domain	530	552	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110686

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	349	371	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110686

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	349	371	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130010

Predicted Effect

probably benign
Transcript: ENSMUST00000139428

SMART Domains

Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCOP:d1utea_	59	274	9e-9	SMART
low complexity region	308	327	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147347

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,141,445 (GRCm39)	D418V	probably benign	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,663,874 (GRCm39)	I259V	probably benign	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Marchf7	T	C	2: 60,065,265 (GRCm39)	S514P	probably benign	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Pramel27	T	C	4: 143,577,380 (GRCm39)	F3S	probably damaging	Het
Prss59	T	G	6: 40,903,096 (GRCm39)	Y92S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	probably benign	Het

Other mutations in Tmem62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Tmem62	APN	2	120,837,445 (GRCm39)	splice site	probably null
IGL01011:Tmem62	APN	2	120,809,700 (GRCm39)	missense	possibly damaging	0.48
IGL02125:Tmem62	APN	2	120,826,993 (GRCm39)	missense	probably benign	0.01
IGL02430:Tmem62	APN	2	120,817,143 (GRCm39)	missense	probably damaging	1.00
R0031:Tmem62	UTSW	2	120,829,594 (GRCm39)	missense	probably benign	0.00
R0535:Tmem62	UTSW	2	120,833,077 (GRCm39)	missense	possibly damaging	0.88
R1597:Tmem62	UTSW	2	120,814,843 (GRCm39)	missense	probably benign	0.01
R1656:Tmem62	UTSW	2	120,837,483 (GRCm39)	missense	probably benign	0.36
R1682:Tmem62	UTSW	2	120,837,538 (GRCm39)	missense	probably benign	0.32
R1702:Tmem62	UTSW	2	120,809,708 (GRCm39)	missense	probably damaging	1.00
R1886:Tmem62	UTSW	2	120,817,151 (GRCm39)	missense	probably damaging	0.99
R1943:Tmem62	UTSW	2	120,817,107 (GRCm39)	missense	probably benign	0.10
R2151:Tmem62	UTSW	2	120,817,343 (GRCm39)	missense	probably damaging	1.00
R2419:Tmem62	UTSW	2	120,837,586 (GRCm39)	missense	probably damaging	0.98
R3034:Tmem62	UTSW	2	120,809,605 (GRCm39)	splice site	probably benign
R3782:Tmem62	UTSW	2	120,807,948 (GRCm39)	missense	probably damaging	1.00
R4326:Tmem62	UTSW	2	120,810,991 (GRCm39)	missense	probably damaging	1.00
R4328:Tmem62	UTSW	2	120,810,991 (GRCm39)	missense	probably damaging	1.00
R4620:Tmem62	UTSW	2	120,826,845 (GRCm39)	intron	probably benign
R5168:Tmem62	UTSW	2	120,824,088 (GRCm39)	missense	probably benign	0.16
R5625:Tmem62	UTSW	2	120,820,874 (GRCm39)	missense	probably damaging	1.00
R6057:Tmem62	UTSW	2	120,807,943 (GRCm39)	missense	probably damaging	0.98
R6386:Tmem62	UTSW	2	120,829,595 (GRCm39)	missense	probably benign	0.00
R7038:Tmem62	UTSW	2	120,824,058 (GRCm39)	missense	possibly damaging	0.87
R7182:Tmem62	UTSW	2	120,835,224 (GRCm39)	missense	probably benign	0.08
R7569:Tmem62	UTSW	2	120,837,411 (GRCm39)	missense	probably benign
R7607:Tmem62	UTSW	2	120,826,921 (GRCm39)	missense	probably benign	0.00
R7849:Tmem62	UTSW	2	120,814,853 (GRCm39)	missense	probably benign	0.01
R8353:Tmem62	UTSW	2	120,814,817 (GRCm39)	missense	probably damaging	0.99
R8531:Tmem62	UTSW	2	120,837,533 (GRCm39)	missense	probably damaging	0.99
R8944:Tmem62	UTSW	2	120,817,316 (GRCm39)	critical splice acceptor site	probably null
R9218:Tmem62	UTSW	2	120,835,224 (GRCm39)	missense	probably benign	0.08
R9448:Tmem62	UTSW	2	120,808,211 (GRCm39)	missense	probably damaging	1.00
R9597:Tmem62	UTSW	2	120,829,567 (GRCm39)	missense	probably benign	0.23
X0052:Tmem62	UTSW	2	120,824,009 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACCAGATGACCAATGCAGCCC -3'
(R):5'- GTGCTTCCTTCCCAACTGTTGGATAAG -3'

Sequencing Primer
(F):5'- CAATGCAGCCCTGTTGGAATG -3'
(R):5'- CTTCCCAACTGTTGGATAAGAATAGG -3'

Posted On

2014-05-23