Mutagenetix > Incidental Mutation

Incidental Mutation 'R1483:Tmem39b'

165685

Institutional Source

Beutler Lab

Gene Symbol

Tmem39b

Ensembl Gene

ENSMUSG00000053730

Gene Name

transmembrane protein 39b

Synonyms

6330509E05Rik

MMRRC Submission

039536-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R1483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129570148-129590631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129570456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 461 (Y461C)

Ref Sequence

ENSEMBL: ENSMUSP00000099648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000102590] [ENSMUST00000125445] [ENSMUST00000126010]

AlphaFold

Q810L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000102588
AA Change: Y461C

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

SMART Domains

Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730
AA Change: Y461C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102590

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731

Domain	Start	End	E-Value	Type
Pfam:IBB	9	102	4.4e-27	PFAM
ARM	112	154	2.46e-4	SMART
ARM	156	196	6.73e-11	SMART
ARM	198	239	3.19e-3	SMART
ARM	242	281	6.64e-1	SMART
ARM	283	323	1.16e-5	SMART
ARM	325	365	1.98e-8	SMART
ARM	367	407	6.68e-6	SMART
ARM	410	450	1.89e-5	SMART
Pfam:Arm_3	464	514	5.3e-26	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: ENSMUST00000126010

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731

Domain	Start	End	E-Value	Type
Pfam:IBB	2	88	3.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154747

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,531,754 (GRCm39)	T494S	probably benign	Het
Akap6	C	T	12: 52,842,870 (GRCm39)	P73S	probably damaging	Het
Amotl2	A	T	9: 102,608,096 (GRCm39)	T763S	probably benign	Het
Brd10	G	A	19: 29,696,745 (GRCm39)	P916L	possibly damaging	Het
Cdc5l	A	T	17: 45,719,290 (GRCm39)	V541D	possibly damaging	Het
Chl1	A	G	6: 103,624,248 (GRCm39)	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,931,733 (GRCm39)	E255G	probably benign	Het
Ddhd2	A	G	8: 26,243,155 (GRCm39)	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Drc3	A	G	11: 60,279,715 (GRCm39)	I427V	probably benign	Het
Drg2	T	C	11: 60,350,353 (GRCm39)	I104T	probably damaging	Het
Dst	C	T	1: 34,292,079 (GRCm39)	A932V	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Eif3a	A	T	19: 60,757,164 (GRCm39)	D880E	unknown	Het
Elf1	T	A	14: 79,818,078 (GRCm39)	D569E	probably benign	Het
Esp6	T	A	17: 40,873,816 (GRCm39)	M1K	probably null	Het
Fer1l6	T	C	15: 58,509,819 (GRCm39)	V1427A	possibly damaging	Het
Gsta1	A	T	9: 78,149,775 (GRCm39)	K196M	probably damaging	Het
Gzme	T	A	14: 56,356,169 (GRCm39)	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,354,724 (GRCm39)	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,432,038 (GRCm39)	S2T	probably benign	Het
Hadhb	A	G	5: 30,374,492 (GRCm39)		probably null	Het
Hoxa11	G	T	6: 52,220,436 (GRCm39)	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,572,041 (GRCm39)	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,049,436 (GRCm39)	V88A	possibly damaging	Het
Knop1	C	T	7: 118,452,273 (GRCm39)	A149T	probably damaging	Het
Macf1	T	A	4: 123,404,770 (GRCm39)	K597I	probably damaging	Het
Med16	A	T	10: 79,738,934 (GRCm39)	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937 (GRCm39)	I98K	probably damaging	Het
Mst1	G	T	9: 107,958,849 (GRCm39)	G127V	probably benign	Het
Nacad	A	G	11: 6,552,217 (GRCm39)	S325P	probably damaging	Het
Nbea	G	A	3: 55,910,211 (GRCm39)	P1328L	probably benign	Het
Nek5	C	T	8: 22,586,806 (GRCm39)	S335N	probably benign	Het
Nif3l1	C	A	1: 58,486,885 (GRCm39)	R24S	probably benign	Het
Nlrp14	T	G	7: 106,789,329 (GRCm39)	N39K	possibly damaging	Het
Nup50	T	A	15: 84,823,928 (GRCm39)	V427D	probably damaging	Het
Nwd1	C	T	8: 73,383,714 (GRCm39)	P78L	probably damaging	Het
Or5an9	T	A	19: 12,187,114 (GRCm39)	Y61*	probably null	Het
Pate8	G	A	9: 36,492,620 (GRCm39)	S95L	probably benign	Het
Pnkd	A	G	1: 74,388,550 (GRCm39)	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,360,465 (GRCm39)	D423G	probably benign	Het
Pramel32	T	A	4: 88,547,071 (GRCm39)	Q116L	probably damaging	Het
Prkci	A	T	3: 31,097,941 (GRCm39)	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,093,161 (GRCm39)	V494M	possibly damaging	Het
Rapgef4	T	G	2: 71,885,370 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,160,099 (GRCm39)	E318G	probably damaging	Het
Rora	A	G	9: 69,271,667 (GRCm39)	D215G	probably benign	Het
Rp1l1	C	T	14: 64,266,496 (GRCm39)	T694I	possibly damaging	Het
Scrib	A	G	15: 75,929,771 (GRCm39)	L1032P	probably damaging	Het
Sectm1b	G	A	11: 120,946,652 (GRCm39)	T81M	probably benign	Het
Sgk3	T	C	1: 9,942,518 (GRCm39)	F97L	possibly damaging	Het
Socs3	A	T	11: 117,858,394 (GRCm39)	Y221*	probably null	Het
Spata31d1e	A	T	13: 59,890,717 (GRCm39)	S368T	probably damaging	Het
Tdrd6	T	A	17: 43,938,498 (GRCm39)	H850L	probably benign	Het
Tex44	G	T	1: 86,354,908 (GRCm39)	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 115,938,625 (GRCm39)	S426A	probably benign	Het
Ttn	T	A	2: 76,555,337 (GRCm39)	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,455 (GRCm39)		probably null	Het
Vmn2r70	T	C	7: 85,208,375 (GRCm39)	I701V	probably benign	Het
Vps39	A	T	2: 120,154,129 (GRCm39)	L622Q	probably damaging	Het
Wdfy4	T	A	14: 32,822,923 (GRCm39)	H1347L	probably benign	Het
Xpo1	A	G	11: 23,234,863 (GRCm39)	I540V	probably benign	Het
Xylt2	A	C	11: 94,560,393 (GRCm39)	M294R	probably benign	Het
Zfp788	T	G	7: 41,298,499 (GRCm39)	Y326*	probably null	Het
Zim1	A	G	7: 6,685,124 (GRCm39)	F109L	probably benign	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
R0503:Tmem39b	UTSW	4	129,580,779 (GRCm39)	missense	possibly damaging	0.95
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'- CTCTGACTGACTGAAAGGCAGGAAC -3'
(R):5'- TTTATGGAAGCAGCGGTGCAGC -3'

Sequencing Primer
(F):5'- caggaacaagagaaagaatcacag -3'
(R):5'- TCATCCAAGAAGCAGGTTTCTGG -3'

Posted On

2014-03-28