Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Tmem39b'

682553

Institutional Source

Beutler Lab

Gene Symbol

Tmem39b

Ensembl Gene

ENSMUSG00000053730

Gene Name

transmembrane protein 39b

Synonyms

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R8708 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

129676355-129696838 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 129676398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114265 (fasta)

Gene Model

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

AlphaFold

Q810L4

Predicted Effect

probably benign
Transcript: ENSMUST00000102588

SMART Domains

Protein: ENSMUSP00000099648
Gene: ENSMUSG00000053730

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Tmem39b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Tmem39b	APN	4	129692518	critical splice acceptor site	probably null
IGL02423:Tmem39b	APN	4	129678649	missense	probably damaging	1.00
PIT4514001:Tmem39b	UTSW	4	129684497	missense	possibly damaging	0.48
R0502:Tmem39b	UTSW	4	129686986	missense	possibly damaging	0.95
R0503:Tmem39b	UTSW	4	129686986	missense	possibly damaging	0.95
R1483:Tmem39b	UTSW	4	129676663	missense	probably damaging	1.00
R1522:Tmem39b	UTSW	4	129684482	missense	probably benign	0.30
R1612:Tmem39b	UTSW	4	129686922	missense	possibly damaging	0.70
R1751:Tmem39b	UTSW	4	129693183	missense	possibly damaging	0.95
R1767:Tmem39b	UTSW	4	129693183	missense	possibly damaging	0.95
R1771:Tmem39b	UTSW	4	129693218	missense	probably damaging	0.99
R2140:Tmem39b	UTSW	4	129678688	missense	probably benign	0.30
R2202:Tmem39b	UTSW	4	129693923	missense	probably benign	0.03
R2204:Tmem39b	UTSW	4	129693923	missense	probably benign	0.03
R2205:Tmem39b	UTSW	4	129693923	missense	probably benign	0.03
R6176:Tmem39b	UTSW	4	129693101	missense	probably damaging	1.00
R6247:Tmem39b	UTSW	4	129686791	missense	possibly damaging	0.69
R6551:Tmem39b	UTSW	4	129692103	missense	probably benign
R6654:Tmem39b	UTSW	4	129686826	missense	probably damaging	1.00
R6934:Tmem39b	UTSW	4	129678573	missense	possibly damaging	0.51
R6988:Tmem39b	UTSW	4	129693148	missense	possibly damaging	0.92
R7614:Tmem39b	UTSW	4	129693901	missense	probably damaging	1.00
R8129:Tmem39b	UTSW	4	129678675	missense	probably damaging	0.99
R9249:Tmem39b	UTSW	4	129678675	missense	probably damaging	0.99
X0024:Tmem39b	UTSW	4	129684447	missense	possibly damaging	0.94
Z1088:Tmem39b	UTSW	4	129692477	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTTAGTAGCAGCCACCATGG -3'
(R):5'- GGCAAAGCCTACTCCTACTC -3'

Sequencing Primer
(F):5'- CCACCATGGCCACCGTG -3'
(R):5'- ACCACCGGTTCTCCTGAG -3'

Posted On

2021-09-22