Mutagenetix > Incidental Mutation

Incidental Mutation 'R7614:Tmem39b'

588757

Institutional Source

Beutler Lab

Gene Symbol

Tmem39b

Ensembl Gene

ENSMUSG00000053730

Gene Name

transmembrane protein 39b

Synonyms

6330509E05Rik

MMRRC Submission

045682-MU

Accession Numbers

Essential gene?

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

Stock #

R7614 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129570148-129590631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129587694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 39 (V39D)

Ref Sequence

ENSEMBL: ENSMUSP00000099648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102588] [ENSMUST00000125445] [ENSMUST00000137640] [ENSMUST00000147668]

AlphaFold

Q810L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000102588
AA Change: V39D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730
AA Change: V39D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125445
AA Change: V39D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121505
Gene: ENSMUSG00000053730
AA Change: V39D

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

probably damaging
Transcript: ENSMUST00000147668
AA Change: V39D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120048
Gene: ENSMUSG00000053730
AA Change: V39D

Domain	Start	End	E-Value	Type
Pfam:Tmp39	46	121	6.8e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,464,429 (GRCm39)	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,236,088 (GRCm39)	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,668,780 (GRCm39)	V2592E	probably damaging	Het
Ahdc1	A	G	4: 132,790,825 (GRCm39)	S689G	probably benign	Het
Ankrd24	G	A	10: 81,474,523 (GRCm39)	G229E	unknown	Het
Ankrd34c	T	A	9: 89,610,914 (GRCm39)	I476F	probably damaging	Het
Arhgef19	A	G	4: 140,984,090 (GRCm39)	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,771,316 (GRCm39)	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,418,466 (GRCm39)	M654K	unknown	Het
Atp11b	T	A	3: 35,864,259 (GRCm39)		probably null	Het
Cadps	A	G	14: 12,454,260 (GRCm38)	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap276	T	A	3: 108,449,848 (GRCm39)	D42E	probably benign	Het
Cntn3	T	C	6: 102,142,337 (GRCm39)	H1010R	probably benign	Het
Cyp2c66	T	A	19: 39,159,472 (GRCm39)	Y308N	probably damaging	Het
Dok6	T	A	18: 89,492,067 (GRCm39)	H170L	probably damaging	Het
Eefsec	C	T	6: 88,258,576 (GRCm39)	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,282,805 (GRCm39)	P237S	probably damaging	Het
Fam186b	T	C	15: 99,184,867 (GRCm39)	I19V	probably damaging	Het
Gm3285	A	T	10: 77,697,865 (GRCm39)	T5S	unknown	Het
Heg1	A	G	16: 33,547,733 (GRCm39)	E864G	probably benign	Het
Herc2	T	A	7: 55,803,023 (GRCm39)	L2124*	probably null	Het
Hexa	T	C	9: 59,469,230 (GRCm39)	S331P	probably damaging	Het
Hspb1	A	T	5: 135,917,223 (GRCm39)	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,719,019 (GRCm39)	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,224,787 (GRCm39)	R478L	probably benign	Het
Kdm3a	T	C	6: 71,568,937 (GRCm39)	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,827,429 (GRCm39)	I87T	possibly damaging	Het
Lars2	T	C	9: 123,224,176 (GRCm39)	S116P		Het
Lrrk2	A	G	15: 91,657,061 (GRCm39)	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,709 (GRCm39)	H61R	probably benign	Het
Or10x4	T	G	1: 174,219,220 (GRCm39)	F195C	probably damaging	Het
Or9s13	A	G	1: 92,548,183 (GRCm39)	Y185C	probably damaging	Het
Pcdhb4	C	A	18: 37,442,602 (GRCm39)	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,304,763 (GRCm39)	D435V	probably benign	Het
Prickle2	T	A	6: 92,402,631 (GRCm39)	Y119F	possibly damaging	Het
Prr5	A	G	15: 84,641,276 (GRCm39)	T181A	probably benign	Het
Psd	T	A	19: 46,301,877 (GRCm39)	Q903L	probably damaging	Het
Ptpn13	T	A	5: 103,649,331 (GRCm39)	S245T	probably benign	Het
Resp18	T	C	1: 75,254,882 (GRCm39)	S24G	probably damaging	Het
Slc17a4	T	C	13: 24,090,580 (GRCm39)	T89A	probably benign	Het
Slc9a9	A	G	9: 94,737,792 (GRCm39)	Y233C	probably damaging	Het
Slit1	T	A	19: 41,622,639 (GRCm39)	I707F	probably damaging	Het
Sp4	T	C	12: 118,218,174 (GRCm39)	E691G	possibly damaging	Het
Sun2	G	T	15: 79,623,225 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,912,901 (GRCm39)	T723A	not run	Het
Tcp1	T	A	17: 13,141,540 (GRCm39)	F340I	possibly damaging	Het
Tmtc3	A	T	10: 100,286,214 (GRCm39)	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,755,094 (GRCm39)	T389S	probably damaging	Het
Ttn	T	C	2: 76,598,873 (GRCm39)	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,553 (GRCm39)	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,660,352 (GRCm39)	T255A	probably benign	Het
Wdr59	T	C	8: 112,219,394 (GRCm39)	Y221C		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
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
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'- TGCACCATCAGTAAGTCTGC -3'
(R):5'- GACACGGAAATACCAGTTAACTAAG -3'

Sequencing Primer
(F):5'- TGCACCATCAGTAAGTCTGCAGTAG -3'
(R):5'- AGATAGCACTACTGTCATCCTTGG -3'

Posted On

2019-10-24