Mutagenetix > Incidental Mutations

Incidental Mutation 'R7803:Tmem38a'

600612

Institutional Source

Beutler Lab

Gene Symbol

Tmem38a

Ensembl Gene

ENSMUSG00000031791

Gene Name

transmembrane protein 38A

Synonyms

1110001E17Rik, TRIC-A

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72572055-72587282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72572120 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 6 (A6V)

Ref Sequence

ENSEMBL: ENSMUSP00000034244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034244] [ENSMUST00000058733] [ENSMUST00000167290] [ENSMUST00000211914] [ENSMUST00000212763]

Predicted Effect

probably benign
Transcript: ENSMUST00000034244
AA Change: A6V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: A6V

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:TRIC	40	231	5.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058733

SMART Domains

Protein: ENSMUSP00000059943
Gene: ENSMUSG00000044600

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167290

SMART Domains

Protein: ENSMUSP00000127441
Gene: ENSMUSG00000044600

Domain	Start	End	E-Value	Type
transmembrane domain	5	23	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211914
AA Change: A6V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212763
AA Change: A6V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

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

Validation Efficiency

98% (49/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	A	19: 34,243,418	A297S	probably benign	Het
Ada	A	G	2: 163,735,368	Y67H	probably benign	Het
Adcy9	A	G	16: 4,304,380	I839T	probably benign	Het
Arg1	C	T	10: 24,916,791	V182I	possibly damaging	Het
Cbx7	G	A	15: 79,933,823	T26M	unknown	Het
Ceacam5	A	G	7: 17,759,392	Y780C	probably damaging	Het
Ces2h	A	G	8: 105,018,400	M389V	probably benign	Het
Chst11	A	T	10: 83,191,186	E149V	possibly damaging	Het
Clstn1	T	C	4: 149,631,871	W265R	probably damaging	Het
Col4a4	A	G	1: 82,489,698		probably null	Het
Csrp3	T	G	7: 48,833,797	K119T	probably benign	Het
Ddx39	T	C	8: 83,719,600		probably null	Het
Ddx41	A	G	13: 55,531,921	I437T	probably damaging	Het
Fbln5	A	T	12: 101,761,818	D282E	probably damaging	Het
Folh1	G	A	7: 86,726,098	T527I	probably damaging	Het
Gch1	T	A	14: 47,188,961	T103S	probably benign	Het
Gm2022	T	A	12: 87,895,499	C44S	probably benign	Het
Gm906	A	G	13: 50,246,190	V700A	probably benign	Het
Gpr149	A	G	3: 62,530,715	S674P	probably damaging	Het
Hecw1	G	T	13: 14,234,342	R1127S	probably benign	Het
Hmcn1	A	T	1: 150,770,279	C723S	probably benign	Het
Impg2	T	C	16: 56,267,150	S1111P	probably damaging	Het
Insl3	T	C	8: 71,689,340	L28P	probably damaging	Het
Kifc1	T	C	17: 33,884,740	D203G	probably benign	Het
Kmt2d	A	T	15: 98,862,923	S849T	unknown	Het
Krt33b	A	G	11: 100,025,258		probably null	Het
Lpin3	A	G	2: 160,895,390	D119G	possibly damaging	Het
Maml2	AGC	AGCCGC	9: 13,621,254		probably benign	Het
Maml2	AGC	AGCCGC	9: 13,621,275		probably benign	Het
Maml2	GCA	GCACCA	9: 13,621,276		probably benign	Het
Nsun7	T	A	5: 66,276,541	L178*	probably null	Het
Olfr775	A	T	10: 129,250,995	I154F	probably benign	Het
Olfr786	A	G	10: 129,436,931	N40D	probably damaging	Het
Olfr972	A	T	9: 39,874,082	D269V	probably benign	Het
Orc6	T	A	8: 85,303,408	S136T	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Plxnc1	A	G	10: 94,943,515		probably null	Het
Prkdc	G	A	16: 15,806,096	D3308N	probably null	Het
Rtkn2	G	A	10: 67,979,813		probably null	Het
Sele	T	C	1: 164,050,694	S201P	possibly damaging	Het
Shq1	A	G	6: 100,671,045	F6S	probably damaging	Het
Sparc	A	T	11: 55,409,971	I5N	probably damaging	Het
Srm	T	C	4: 148,593,945	I238T	probably damaging	Het
Stx2	C	A	5: 128,993,563	E97*	probably null	Het
Sugp2	C	T	8: 70,252,072	P753L	probably benign	Het
Tenm2	A	T	11: 36,047,116	S1578T	probably damaging	Het
Tff3	T	C	17: 31,129,570	T3A	probably benign	Het
Trbv16	G	A	6: 41,151,995	A38T	not run	Het
Trim30a	G	A	7: 104,411,397	Q391*	probably null	Het
Ttn	T	G	2: 76,776,371	Y18065S	probably damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Vmn2r24	T	A	6: 123,780,479	M102K	probably benign	Het
Vmn2r69	G	T	7: 85,407,116	H605N	probably benign	Het
Washc1	T	A	17: 66,119,060	M451K	possibly damaging	Het
Washc3	G	T	10: 88,216,075		probably null	Het
Washc5	A	T	15: 59,368,459	Y112N	probably damaging	Het
Zbtb40	T	A	4: 137,017,327	T261S	probably benign	Het

Other mutations in Tmem38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Tmem38a	APN	8	72579974	missense	probably damaging	0.99
IGL02715:Tmem38a	APN	8	72579668	missense	possibly damaging	0.69
IGL02967:Tmem38a	APN	8	72586082	missense	possibly damaging	0.95
R0631:Tmem38a	UTSW	8	72580018	missense	probably benign	0.05
R1073:Tmem38a	UTSW	8	72580103	missense	probably damaging	1.00
R1161:Tmem38a	UTSW	8	72579970	missense	probably damaging	1.00
R1310:Tmem38a	UTSW	8	72579970	missense	probably damaging	1.00
R1489:Tmem38a	UTSW	8	72579635	missense	probably damaging	1.00
R2040:Tmem38a	UTSW	8	72581252	missense	probably damaging	1.00
R4508:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4515:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4517:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4521:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4522:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4529:Tmem38a	UTSW	8	72572161	missense	possibly damaging	0.91
R4867:Tmem38a	UTSW	8	72581233	missense	possibly damaging	0.80
R5200:Tmem38a	UTSW	8	72580034	missense	probably damaging	1.00
R5807:Tmem38a	UTSW	8	72580100	missense	probably damaging	1.00
R5882:Tmem38a	UTSW	8	72585887	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAACGAGTTCTGACGTCC -3'
(R):5'- AGGATCTAGCCTGTCTCCTC -3'

Sequencing Primer
(F):5'- GAACGAGTTCTGACGTCCCTACG -3'
(R):5'- CCTTTCGTCTCCATCATCAAGCTAG -3'

Posted On

2019-11-26