Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:Tmem62'

585621

Institutional Source

Beutler Lab

Gene Symbol

Tmem62

Ensembl Gene

ENSMUSG00000054484

Gene Name

transmembrane protein 62

Synonyms

B830009D23Rik

MMRRC Submission

045657-MU

Accession Numbers

Essential gene?

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

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120807498-120838333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120837411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 573 (I573L)

Ref Sequence

ENSEMBL: ENSMUSP00000064310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000067582] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000110686] [ENSMUST00000139428] [ENSMUST00000171260]

AlphaFold

Q8BXJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000060455

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	318	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067582
AA Change: I573L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: I573L

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 benign
Transcript: ENSMUST00000099488

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	311	4.8e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099489

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	3	271	3.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110686
AA Change: I443L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: I443L

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 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

probably benign
Transcript: ENSMUST00000171260

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	52	309	4.7e-74	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	A	T	15: 40,008,344 (GRCm39)	T73S	unknown	Het
Acvrl1	A	G	15: 101,033,636 (GRCm39)	Q106R	probably benign	Het
Adgb	A	T	10: 10,306,996 (GRCm39)	D329E	probably benign	Het
Ankrd12	A	T	17: 66,289,900 (GRCm39)	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Apol6	A	C	15: 76,934,898 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,629,506 (GRCm39)	V618M	probably damaging	Het
Asic3	A	G	5: 24,619,046 (GRCm39)	T113A	probably benign	Het
BC034090	T	A	1: 155,093,151 (GRCm39)	H769L	probably benign	Het
Bcl11a	G	T	11: 24,035,458 (GRCm39)	E65*	probably null	Het
Birc6	G	T	17: 74,905,077 (GRCm39)	R1290L	possibly damaging	Het
C6	A	G	15: 4,819,063 (GRCm39)	E465G	probably benign	Het
Cav2	T	A	6: 17,282,078 (GRCm39)	I112N	probably damaging	Het
Cep131	G	A	11: 119,957,539 (GRCm39)	A848V	probably damaging	Het
Col8a1	T	A	16: 57,447,555 (GRCm39)	I652F	unknown	Het
Cul4a	A	G	8: 13,173,493 (GRCm39)	N180S	probably benign	Het
Dhx38	A	G	8: 110,287,327 (GRCm39)	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,323,271 (GRCm39)	V1197A	possibly damaging	Het
Dynlt1f	A	G	17: 6,923,181 (GRCm39)	S7P	not run	Het
Eef1ece2	T	A	16: 20,461,237 (GRCm39)	Y641*	probably null	Het
Epha1	T	A	6: 42,342,356 (GRCm39)	T331S	possibly damaging	Het
Hus1b	A	G	13: 31,130,847 (GRCm39)	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,268,978 (GRCm39)	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,141,046 (GRCm39)	L651P	probably damaging	Het
Lgr5	T	C	10: 115,298,661 (GRCm39)	Y361C	probably damaging	Het
Map1s	T	C	8: 71,366,142 (GRCm39)	V349A	probably benign	Het
Map3k6	A	G	4: 132,977,388 (GRCm39)	R912G	probably benign	Het
Mtarc2	A	T	1: 184,573,622 (GRCm39)	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,900,433 (GRCm39)	H459Q	probably benign	Het
Nlrp1a	T	C	11: 70,999,869 (GRCm39)	M817V	probably benign	Het
Npsr1	A	G	9: 24,225,026 (GRCm39)	R345G	probably benign	Het
Nuak2	G	A	1: 132,244,019 (GRCm39)	A18T	possibly damaging	Het
Or4d6	T	C	19: 12,086,385 (GRCm39)	D175G	possibly damaging	Het
Or5ak23	A	G	2: 85,244,479 (GRCm39)	V248A	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp4r3b	T	C	11: 29,138,540 (GRCm39)	F296S	possibly damaging	Het
Pramel51	A	T	12: 88,143,085 (GRCm39)	Y373N	probably benign	Het
Pycr2	T	C	1: 180,732,083 (GRCm39)	F19L	probably benign	Het
Robo2	T	A	16: 73,832,003 (GRCm39)	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194 (GRCm39)	N132K	probably damaging	Het
Rp1	A	T	1: 4,355,063 (GRCm39)	L379Q	unknown	Het
Sema6d	A	G	2: 124,499,892 (GRCm39)	I323V	possibly damaging	Het
Slc12a4	A	G	8: 106,672,479 (GRCm39)	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,272,584 (GRCm39)	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,547,276 (GRCm39)	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,029,695 (GRCm39)	D94E	probably benign	Het
Sorcs2	A	G	5: 36,183,220 (GRCm39)	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,090,947 (GRCm39)	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,821,553 (GRCm39)	V123A	probably benign	Het
Stradb	A	G	1: 59,030,310 (GRCm39)	Y188C	unknown	Het
Styxl2	T	C	1: 165,935,604 (GRCm39)	D198G	probably damaging	Het
Sult2a2	T	C	7: 13,513,430 (GRCm39)	F186L	probably benign	Het
Syne2	A	G	12: 75,974,164 (GRCm39)	T1120A	probably benign	Het
Taok1	A	T	11: 77,446,440 (GRCm39)	S430T	probably benign	Het
Trav9-1	T	C	14: 53,725,581 (GRCm39)	S7P	probably benign	Het
U2af1l4	A	T	7: 30,262,982 (GRCm39)	I24F	probably damaging	Het
Usp33	T	A	3: 152,097,302 (GRCm39)	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,601,544 (GRCm39)	I698S	probably damaging	Het
Zfp352	C	T	4: 90,111,896 (GRCm39)	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,493,969 (GRCm39)	E358V	probably damaging	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
R1755:Tmem62	UTSW	2	120,814,958 (GRCm39)	critical splice donor site	probably null
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
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'- GAAGTTACTAACACTGAGACGCAAC -3'
(R):5'- AAGCCATGGACTTCAGGAGC -3'

Sequencing Primer
(F):5'- TGAGACGCAACCCTTCCCAG -3'
(R):5'- CCATGGACTTCAGGAGCTCAGATG -3'

Posted On

2019-10-17