Mutagenetix > Incidental Mutation

Incidental Mutation 'R5625:Tmem62'

441774

Institutional Source

Beutler Lab

Gene Symbol

Tmem62

Ensembl Gene

ENSMUSG00000054484

Gene Name

transmembrane protein 62

Synonyms

B830009D23Rik

MMRRC Submission

043164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120807498-120838333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120820874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 180 (W180L)

Ref Sequence

ENSEMBL: ENSMUSP00000106314 (fasta)

Gene Model

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

AlphaFold

Q8BXJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067582
AA Change: W310L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: W310L

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 damaging
Transcript: ENSMUST00000110686
AA Change: W180L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: W180L

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: 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

Meta Mutation Damage Score

0.9378

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	G	9: 44,189,333 (GRCm39)	D388A	probably benign	Het
Ampd3	A	C	7: 110,401,730 (GRCm39)	E408A	probably damaging	Het
Bmp1	G	T	14: 70,723,606 (GRCm39)	N743K	probably benign	Het
Brsk1	A	G	7: 4,709,399 (GRCm39)	K398E	probably damaging	Het
Ccdc157	A	T	11: 4,101,888 (GRCm39)	M11K	probably damaging	Het
Cep295	A	C	9: 15,252,187 (GRCm39)	M394R	probably damaging	Het
Cfap44	G	T	16: 44,280,710 (GRCm39)		probably null	Het
Col13a1	C	T	10: 61,679,388 (GRCm39)	G713R	unknown	Het
Cxcr2	A	T	1: 74,197,991 (GRCm39)	K162*	probably null	Het
Cyp3a44	C	T	5: 145,716,376 (GRCm39)	D405N	possibly damaging	Het
Exo1	G	T	1: 175,721,380 (GRCm39)	D340Y	possibly damaging	Het
Farp2	T	G	1: 93,456,470 (GRCm39)	L51R	probably damaging	Het
Fat4	A	T	3: 38,943,083 (GRCm39)	I659F	possibly damaging	Het
Gbp2b	T	A	3: 142,304,806 (GRCm39)	W81R	probably damaging	Het
Gipc2	C	T	3: 151,871,541 (GRCm39)		probably benign	Het
Gm10941	G	T	10: 77,094,670 (GRCm39)		probably benign	Het
Gm1988	A	T	7: 38,823,229 (GRCm39)		noncoding transcript	Het
Hapln3	G	T	7: 78,767,006 (GRCm39)		probably null	Het
Ifi213	A	G	1: 173,396,629 (GRCm39)	S482P	possibly damaging	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Lrrn1	T	A	6: 107,544,315 (GRCm39)	C38S	probably damaging	Het
Mycbpap	T	C	11: 94,396,519 (GRCm39)	E107G	probably damaging	Het
Neb	A	T	2: 52,067,547 (GRCm39)	L5848*	probably null	Het
Nrg3	A	T	14: 38,092,950 (GRCm39)	M545K	probably damaging	Het
Nudt3	A	G	17: 27,802,202 (GRCm39)	L28P	probably damaging	Het
Or8g35	T	A	9: 39,381,099 (GRCm39)	M308L	probably benign	Het
Otop1	A	T	5: 38,460,104 (GRCm39)	Y557F	probably damaging	Het
Pcare	T	A	17: 72,058,321 (GRCm39)	D452V	probably damaging	Het
Pdgfra	G	A	5: 75,349,998 (GRCm39)		probably null	Het
Pi4kb	A	G	3: 94,891,988 (GRCm39)	M223V	probably benign	Het
Piezo1	T	C	8: 123,209,699 (GRCm39)	T2335A	probably benign	Het
Ppp6c	A	G	2: 39,087,453 (GRCm39)	V251A	probably benign	Het
Prkg1	C	T	19: 31,742,162 (GRCm39)	E21K	possibly damaging	Het
Ptpru	T	C	4: 131,530,691 (GRCm39)	E521G	probably null	Het
Rasl10b	G	T	11: 83,309,640 (GRCm39)	R199L	probably damaging	Het
Rhbdf2	G	A	11: 116,496,203 (GRCm39)	R111C	probably damaging	Het
Sec23ip	G	T	7: 128,346,707 (GRCm39)		probably benign	Het
Sptbn5	A	T	2: 119,910,273 (GRCm39)		noncoding transcript	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,141,886 (GRCm39)	S6141P	probably benign	Het
Szt2	A	G	4: 118,230,414 (GRCm39)	V2653A	unknown	Het
Tex46	T	C	4: 136,337,925 (GRCm39)	F39S	probably damaging	Het
Tmem50a	AACCA	AA	4: 134,625,778 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,904,185 (GRCm39)	A1232T	probably benign	Het
Tubgcp3	T	C	8: 12,674,888 (GRCm39)	H744R	possibly damaging	Het
Uggt2	A	G	14: 119,315,136 (GRCm39)	I311T	probably damaging	Het
Usp8	C	T	2: 126,584,197 (GRCm39)	R469C	probably damaging	Het
Vmn1r19	T	C	6: 57,382,281 (GRCm39)	L278S	probably damaging	Het
Vmn2r129	A	T	4: 156,686,505 (GRCm39)		noncoding transcript	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	Het
Wdr93	A	G	7: 79,420,766 (GRCm39)	T376A	probably benign	Het
Zfp575	G	A	7: 24,285,077 (GRCm39)	A188V	possibly 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
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'- GCATTTTACTTTCAAGCACCAGCC -3'
(R):5'- TGAGGCATGCCCTAGCTTTC -3'

Sequencing Primer
(F):5'- CTCACTATCTAGCTGAGGATGAGC -3'
(R):5'- ATGCCCTAGCTTTCACACCAC -3'

Posted On

2016-11-08