Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Tmem39b'

47242

Institutional Source

Beutler Lab

Gene Symbol

Tmem39b

Ensembl Gene

ENSMUSG00000053730

Gene Name

transmembrane protein 39b

Synonyms

6330509E05Rik

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129570148-129590631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129580779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 238 (Y238D)

Ref Sequence

ENSEMBL: ENSMUSP00000099648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000125445] [ENSMUST00000137640]

AlphaFold

Q810L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102588
AA Change: Y238D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730
AA Change: Y238D

Domain	Start	End	E-Value	Type
Pfam:Tmp39	48	478	1.6e-207	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125445

SMART Domains

Protein: ENSMUSP00000121505
Gene: ENSMUSG00000053730

Domain	Start	End	E-Value	Type
Pfam:Tmp39	46	122	3.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137640

SMART Domains

Protein: ENSMUSP00000115156
Gene: ENSMUSG00000053730

Domain	Start	End	E-Value	Type
Pfam:Tmp39	1	70	1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184308

Meta Mutation Damage Score

0.3959

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Erich2	A	T	2: 70,340,043 (GRCm39)	R169S	probably damaging	Het
Erich2	C	A	2: 70,371,119 (GRCm39)	S426R	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,772 (GRCm39)	Y250C	probably damaging	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,731,710 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het
Zkscan1	T	A	5: 138,091,588 (GRCm39)	I107N	probably damaging	Het

Other mutations in Tmem39b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Tmem39b	APN	4	129,586,311 (GRCm39)	critical splice acceptor site	probably null
IGL02423:Tmem39b	APN	4	129,572,442 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Tmem39b	UTSW	4	129,578,290 (GRCm39)	missense	possibly damaging	0.48
R0502:Tmem39b	UTSW	4	129,580,779 (GRCm39)	missense	possibly damaging	0.95
R1483:Tmem39b	UTSW	4	129,570,456 (GRCm39)	missense	probably damaging	1.00
R1522:Tmem39b	UTSW	4	129,578,275 (GRCm39)	missense	probably benign	0.30
R1612:Tmem39b	UTSW	4	129,580,715 (GRCm39)	missense	possibly damaging	0.70
R1751:Tmem39b	UTSW	4	129,586,976 (GRCm39)	missense	possibly damaging	0.95
R1767:Tmem39b	UTSW	4	129,586,976 (GRCm39)	missense	possibly damaging	0.95
R1771:Tmem39b	UTSW	4	129,587,011 (GRCm39)	missense	probably damaging	0.99
R2140:Tmem39b	UTSW	4	129,572,481 (GRCm39)	missense	probably benign	0.30
R2202:Tmem39b	UTSW	4	129,587,716 (GRCm39)	missense	probably benign	0.03
R2204:Tmem39b	UTSW	4	129,587,716 (GRCm39)	missense	probably benign	0.03
R2205:Tmem39b	UTSW	4	129,587,716 (GRCm39)	missense	probably benign	0.03
R6176:Tmem39b	UTSW	4	129,586,894 (GRCm39)	missense	probably damaging	1.00
R6247:Tmem39b	UTSW	4	129,580,584 (GRCm39)	missense	possibly damaging	0.69
R6551:Tmem39b	UTSW	4	129,585,896 (GRCm39)	missense	probably benign
R6654:Tmem39b	UTSW	4	129,580,619 (GRCm39)	missense	probably damaging	1.00
R6934:Tmem39b	UTSW	4	129,572,366 (GRCm39)	missense	possibly damaging	0.51
R6988:Tmem39b	UTSW	4	129,586,941 (GRCm39)	missense	possibly damaging	0.92
R7614:Tmem39b	UTSW	4	129,587,694 (GRCm39)	missense	probably damaging	1.00
R8129:Tmem39b	UTSW	4	129,572,468 (GRCm39)	missense	probably damaging	0.99
R8708:Tmem39b	UTSW	4	129,570,191 (GRCm39)	unclassified	probably benign
R9249:Tmem39b	UTSW	4	129,572,468 (GRCm39)	missense	probably damaging	0.99
X0024:Tmem39b	UTSW	4	129,578,240 (GRCm39)	missense	possibly damaging	0.94
Z1088:Tmem39b	UTSW	4	129,586,270 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CATAGTAGGCACTCAGCATGGAGC -3'
(R):5'- TGAACCATTGACTTGGATGGAGACG -3'

Sequencing Primer
(F):5'- CTCAGCATGGAGCTGACAAG -3'
(R):5'- AAGTCAGTGTTGTCCCCG -3'

Posted On

2013-06-12