Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Tmem39a'

631087

Institutional Source

Beutler Lab

Gene Symbol

Tmem39a

Ensembl Gene

ENSMUSG00000002845

Gene Name

transmembrane protein 39a

Synonyms

MMRRC Submission

067543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R8114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38379060-38412524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38411358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 438 (L438M)

Ref Sequence

ENSEMBL: ENSMUSP00000002924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002924] [ENSMUST00000163884] [ENSMUST00000163948] [ENSMUST00000171687]

AlphaFold

Q9CYC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000002924
AA Change: L438M

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

SMART Domains

Protein: ENSMUSP00000002924
Gene: ENSMUSG00000002845
AA Change: L438M

Domain	Start	End	E-Value	Type
Pfam:Tmp39	40	476	9.4e-198	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163884
AA Change: L438M

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

SMART Domains

Protein: ENSMUSP00000132515
Gene: ENSMUSG00000002845
AA Change: L438M

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
Pfam:Tmp39	42	475	1.3e-198	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163948

SMART Domains

Protein: ENSMUSP00000130791
Gene: ENSMUSG00000002845

Domain	Start	End	E-Value	Type
low complexity region	26	34	N/A	INTRINSIC
Pfam:Tmp39	35	164	7.1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165631

SMART Domains

Protein: ENSMUSP00000130186
Gene: ENSMUSG00000002845

Domain	Start	End	E-Value	Type
Pfam:Tmp39	1	101	9.7e-49	PFAM
Pfam:Tmp39	99	134	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166854

SMART Domains

Protein: ENSMUSP00000127040
Gene: ENSMUSG00000002845

Domain	Start	End	E-Value	Type
Pfam:Tmp39	1	152	4.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169554

SMART Domains

Protein: ENSMUSP00000127143
Gene: ENSMUSG00000002845

Domain	Start	End	E-Value	Type
Pfam:Tmp39	1	190	2.2e-69	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171687
AA Change: L370M

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126218
Gene: ENSMUSG00000002845
AA Change: L370M

Domain	Start	End	E-Value	Type
Pfam:Tmp39	40	192	4.4e-62	PFAM
Pfam:Tmp39	193	408	4.2e-119	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Or8k53	A	T	2: 86,177,530 (GRCm39)	H193Q	probably benign	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	probably benign	Het

Other mutations in Tmem39a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03276:Tmem39a	APN	16	38,405,646 (GRCm39)	missense	probably benign	0.01
R0270:Tmem39a	UTSW	16	38,384,675 (GRCm39)	splice site	probably benign
R0382:Tmem39a	UTSW	16	38,411,760 (GRCm39)	utr 3 prime	probably benign
R0539:Tmem39a	UTSW	16	38,411,337 (GRCm39)	missense	probably benign	0.00
R0743:Tmem39a	UTSW	16	38,405,764 (GRCm39)	missense	probably damaging	1.00
R1324:Tmem39a	UTSW	16	38,393,531 (GRCm39)	missense	possibly damaging	0.84
R4052:Tmem39a	UTSW	16	38,406,650 (GRCm39)	missense	probably damaging	1.00
R4799:Tmem39a	UTSW	16	38,411,524 (GRCm39)	utr 3 prime	probably benign
R4919:Tmem39a	UTSW	16	38,405,561 (GRCm39)	missense	probably benign
R5109:Tmem39a	UTSW	16	38,411,326 (GRCm39)	missense	probably damaging	0.99
R5901:Tmem39a	UTSW	16	38,393,568 (GRCm39)	missense	probably benign	0.00
R5978:Tmem39a	UTSW	16	38,411,392 (GRCm39)	missense	probably benign	0.12
R5979:Tmem39a	UTSW	16	38,396,106 (GRCm39)	missense	probably damaging	0.99
R6375:Tmem39a	UTSW	16	38,405,599 (GRCm39)	missense	probably benign	0.00
R7357:Tmem39a	UTSW	16	38,406,592 (GRCm39)	missense	probably damaging	1.00
R7485:Tmem39a	UTSW	16	38,408,658 (GRCm39)	missense	possibly damaging	0.51
R8114:Tmem39a	UTSW	16	38,411,359 (GRCm39)	missense	probably damaging	1.00
R9756:Tmem39a	UTSW	16	38,396,126 (GRCm39)	missense	probably benign
Z1088:Tmem39a	UTSW	16	38,396,140 (GRCm39)	missense	possibly damaging	0.69
Z1176:Tmem39a	UTSW	16	38,408,586 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTAGATCTCTACAGCAAGGATAG -3'
(R):5'- ATCTGAATTCTCCCTCCTGTTGAGAG -3'

Sequencing Primer
(F):5'- GGATAGTTTGCCACTAAATATGCAG -3'
(R):5'- CCTCCTGTTGAGAGACAGCTTAG -3'

Posted On

2020-06-30