Mutagenetix > Incidental Mutation

Incidental Mutation 'R4521:Tmem38a'

334225

Institutional Source

Beutler Lab

Gene Symbol

Tmem38a

Ensembl Gene

ENSMUSG00000031791

Gene Name

transmembrane protein 38A

Synonyms

1110001E17Rik, TRIC-A

MMRRC Submission

041764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4521 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

73325899-73341126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73326005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 20 (P20S)

Ref Sequence

ENSEMBL: ENSMUSP00000148844 (fasta)

Gene Model

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

AlphaFold

Q3TMP8

Predicted Effect

probably benign
Transcript: ENSMUST00000034244
AA Change: P20S

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: P20S

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

noncoding transcript
Transcript: ENSMUST00000163745

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: P20S

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212763
AA Change: P20S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Bora	G	T	14: 99,305,984 (GRCm39)	S451I	probably damaging	Het
Cadm3	A	T	1: 173,172,630 (GRCm39)		probably null	Het
Car14	A	G	3: 95,811,690 (GRCm39)		probably benign	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdc20b	A	G	13: 113,217,725 (GRCm39)	I381M	probably damaging	Het
Col12a1	C	T	9: 79,540,639 (GRCm39)	V2449I	probably benign	Het
Crb2	T	C	2: 37,685,349 (GRCm39)		probably benign	Het
Dcaf6	A	T	1: 165,218,059 (GRCm39)	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,777,871 (GRCm39)	R372H	probably damaging	Het
Fat3	T	C	9: 15,834,238 (GRCm39)	N4118S	probably null	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fpr2	A	C	17: 18,113,509 (GRCm39)	R168S	probably benign	Het
Ghr	A	G	15: 3,355,440 (GRCm39)	I281T	probably damaging	Het
Glmp	C	A	3: 88,235,346 (GRCm39)	N259K	possibly damaging	Het
Grhl3	T	C	4: 135,273,561 (GRCm39)	K564E	probably damaging	Het
Helz2	T	C	2: 180,870,626 (GRCm39)	H2875R	probably benign	Het
Lcp1	A	G	14: 75,452,608 (GRCm39)	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,376,922 (GRCm39)	M1K	probably null	Het
Lrp6	A	G	6: 134,462,825 (GRCm39)	C612R	probably damaging	Het
Map3k13	T	C	16: 21,724,525 (GRCm39)	V341A	possibly damaging	Het
Megf8	T	A	7: 25,042,126 (GRCm39)	C1315S	probably benign	Het
Mrgpra9	A	T	7: 46,884,938 (GRCm39)	L243H	probably damaging	Het
Mrgprx1	T	C	7: 47,671,447 (GRCm39)	D100G	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nup93	T	C	8: 95,041,264 (GRCm39)	Y801H	probably damaging	Het
Or51b6b	C	T	7: 103,309,539 (GRCm39)	R306H	probably benign	Het
Or6c69b	T	A	10: 129,627,050 (GRCm39)	N136I	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Plpp2	A	G	10: 79,366,459 (GRCm39)	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,346,167 (GRCm39)	V496A	probably benign	Het
Rbm20	A	G	19: 53,805,633 (GRCm39)	N466S	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Skida1	T	C	2: 18,050,683 (GRCm39)		probably benign	Het
Stk17b	A	G	1: 53,803,197 (GRCm39)	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,205,085 (GRCm39)	I287T	probably damaging	Het
Topbp1	T	C	9: 103,211,401 (GRCm39)		probably benign	Het
Tsen54	G	A	11: 115,707,932 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,555,560 (GRCm39)	R28736*	probably null	Het
Wdr36	G	A	18: 32,974,201 (GRCm39)		probably null	Het

Other mutations in Tmem38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02572:Tmem38a	APN	8	73,333,818 (GRCm39)	missense	probably damaging	0.99
IGL02715:Tmem38a	APN	8	73,333,512 (GRCm39)	missense	possibly damaging	0.69
IGL02967:Tmem38a	APN	8	73,339,926 (GRCm39)	missense	possibly damaging	0.95
R0631:Tmem38a	UTSW	8	73,333,862 (GRCm39)	missense	probably benign	0.05
R1073:Tmem38a	UTSW	8	73,333,947 (GRCm39)	missense	probably damaging	1.00
R1161:Tmem38a	UTSW	8	73,333,814 (GRCm39)	missense	probably damaging	1.00
R1310:Tmem38a	UTSW	8	73,333,814 (GRCm39)	missense	probably damaging	1.00
R1489:Tmem38a	UTSW	8	73,333,479 (GRCm39)	missense	probably damaging	1.00
R2040:Tmem38a	UTSW	8	73,335,096 (GRCm39)	missense	probably damaging	1.00
R4508:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4515:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4517:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4522:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4529:Tmem38a	UTSW	8	73,326,005 (GRCm39)	missense	possibly damaging	0.91
R4867:Tmem38a	UTSW	8	73,335,077 (GRCm39)	missense	possibly damaging	0.80
R5200:Tmem38a	UTSW	8	73,333,878 (GRCm39)	missense	probably damaging	1.00
R5807:Tmem38a	UTSW	8	73,333,944 (GRCm39)	missense	probably damaging	1.00
R5882:Tmem38a	UTSW	8	73,339,731 (GRCm39)	missense	probably damaging	1.00
R7803:Tmem38a	UTSW	8	73,325,964 (GRCm39)	missense	probably benign	0.01
R8945:Tmem38a	UTSW	8	73,338,570 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAACGAGTTCTGACGTCCC -3'
(R):5'- AACAAGAGCGCTCCTTTTCTTC -3'

Sequencing Primer
(F):5'- TACGGCCCCGCATTTTGG -3'
(R):5'- GAGCACTCCACGATCTCAG -3'

Posted On

2015-08-18