Mutagenetix > Incidental Mutation

Incidental Mutation 'R4508:Tmem38a'

331075

Institutional Source

Beutler Lab

Gene Symbol

Tmem38a

Ensembl Gene

ENSMUSG00000031791

Gene Name

transmembrane protein 38A

Synonyms

1110001E17Rik, TRIC-A

MMRRC Submission

041757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4508 (G1)

Quality Score

225

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: 97.2%
20x: 95.3%

Validation Efficiency

100% (50/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,746,275 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,380 (GRCm39)	R540G	probably benign	Het
Ank	C	T	15: 27,565,063 (GRCm39)	R255W	probably damaging	Het
Ank3	A	C	10: 69,728,200 (GRCm39)	I629L	probably damaging	Het
Arhgap11a	T	A	2: 113,672,387 (GRCm39)	N194Y	probably damaging	Het
BB014433	T	C	8: 15,092,095 (GRCm39)	T253A	possibly damaging	Het
Ccdc40	C	A	11: 119,133,335 (GRCm39)	D534E	probably damaging	Het
Chrna2	C	A	14: 66,383,902 (GRCm39)	N106K	probably damaging	Het
Clec2f	C	A	6: 128,997,474 (GRCm39)		noncoding transcript	Het
Cnnm2	G	A	19: 46,865,709 (GRCm39)	D766N	probably benign	Het
Ctc1	A	G	11: 68,906,943 (GRCm39)		probably null	Het
Ddc	C	T	11: 11,769,393 (GRCm39)		probably null	Het
Doc2g	G	A	19: 4,054,036 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,851,481 (GRCm39)	T1334A	unknown	Het
Epdr1	T	C	13: 19,778,659 (GRCm39)	I44V	probably benign	Het
Fbp2	A	T	13: 62,989,679 (GRCm39)	I209N	probably damaging	Het
Garin1b	T	C	6: 29,323,764 (GRCm39)	V163A	probably benign	Het
Get1	T	A	16: 95,946,899 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,120,807 (GRCm39)	Q375K	probably damaging	Het
Hc	A	C	2: 34,903,077 (GRCm39)	V1058G	possibly damaging	Het
Hydin	T	A	8: 111,245,886 (GRCm39)	S2200T	possibly damaging	Het
Kcnc1	C	T	7: 46,077,712 (GRCm39)	P505S	probably benign	Het
Kifc3	T	C	8: 95,834,048 (GRCm39)		probably null	Het
Klhl10	A	G	11: 100,333,002 (GRCm39)	E49G	possibly damaging	Het
Lhx5	T	C	5: 120,573,499 (GRCm39)	S161P	probably damaging	Het
Lilra6	G	T	7: 3,915,028 (GRCm39)	Y455*	probably null	Het
Lzts1	C	T	8: 69,588,270 (GRCm39)	R562H	probably benign	Het
Muc6	G	A	7: 141,226,356 (GRCm39)		probably benign	Het
Ogfod2	C	T	5: 124,251,317 (GRCm39)	Q74*	probably null	Het
Or4f56	A	C	2: 111,703,947 (GRCm39)	D84E	probably damaging	Het
Or5h17	T	A	16: 58,820,138 (GRCm39)	V30E	probably benign	Het
Polr2a	T	C	11: 69,633,385 (GRCm39)		probably null	Het
Ptpre	T	C	7: 135,270,832 (GRCm39)	L329P	probably damaging	Het
Rnh1	T	C	7: 140,744,456 (GRCm39)	Q73R	possibly damaging	Het
Scly	G	A	1: 91,236,047 (GRCm39)	V100I	possibly damaging	Het
Sos2	A	T	12: 69,682,435 (GRCm39)	L261*	probably null	Het
Sp1	A	C	15: 102,317,747 (GRCm39)	Q422P	possibly damaging	Het
Sp3	A	T	2: 72,800,741 (GRCm39)	F468Y	probably damaging	Het
Tenm2	T	C	11: 35,899,172 (GRCm39)	Y2662C	possibly damaging	Het
Tmprss2	C	A	16: 97,371,627 (GRCm39)	G281C	probably damaging	Het
Tmprss6	A	T	15: 78,343,978 (GRCm39)	Y183N	probably damaging	Het
Ttn	A	T	2: 76,580,684 (GRCm39)	L23403Q	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r90	T	C	7: 14,296,084 (GRCm39)	N5D	probably benign	Het
Vps13b	A	G	15: 35,709,819 (GRCm39)	D1922G	possibly damaging	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
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
R4521: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

2015-07-21