Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00163:Tex47'

1675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex47

Ensembl Gene

ENSMUSG00000040514

Gene Name

testis expressed 47

Synonyms

4921511H03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL00163

Quality Score

Status

Chromosome

Chromosomal Location

7354119-7361491 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 7355468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 216 (Y216*)

Ref Sequence

ENSEMBL: ENSMUSP00000125471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088796] [ENSMUST00000159546] [ENSMUST00000160634] [ENSMUST00000200317]

AlphaFold

Q9D5W8

Predicted Effect

probably null
Transcript: ENSMUST00000088796
AA Change: Y216*

SMART Domains

Protein: ENSMUSP00000086176
Gene: ENSMUSG00000040514
AA Change: Y216*

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000159546
AA Change: Y216*

SMART Domains

Protein: ENSMUSP00000124368
Gene: ENSMUSG00000040514
AA Change: Y216*

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000160634
AA Change: Y216*

SMART Domains

Protein: ENSMUSP00000125471
Gene: ENSMUSG00000040514
AA Change: Y216*

Domain	Start	End	E-Value	Type
Blast:BLUF	47	146	2e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196680

Predicted Effect

probably benign
Transcript: ENSMUST00000200317

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094

Domain	Start	End	E-Value	Type
ZnF_C2H2	56	80	2e-2	SMART
low complexity region	958	970	N/A	INTRINSIC
low complexity region	1155	1179	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1215	1234	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,310 (GRCm39)	Q103*	probably null	Het
4933406P04Rik	C	A	10: 20,186,970 (GRCm39)		probably benign	Het
Adgrg6	T	C	10: 14,343,194 (GRCm39)	E251G	probably damaging	Het
Ago2	T	C	15: 72,998,302 (GRCm39)	H292R	probably benign	Het
Akr1c6	T	C	13: 4,498,977 (GRCm39)		probably benign	Het
Arhgap24	T	A	5: 103,008,265 (GRCm39)	M62K	possibly damaging	Het
Bicd1	A	G	6: 149,451,888 (GRCm39)	H834R	possibly damaging	Het
Ccdc77	G	T	6: 120,306,045 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,818,818 (GRCm39)	H337N	probably damaging	Het
Cep192	A	G	18: 68,013,871 (GRCm39)	T2424A	possibly damaging	Het
Cep78	T	C	19: 15,946,504 (GRCm39)	T443A	probably benign	Het
Chrna1	T	A	2: 73,400,986 (GRCm39)	E181D	probably benign	Het
Dmxl1	G	A	18: 49,984,534 (GRCm39)	D177N	probably damaging	Het
Eif3h	T	A	15: 51,650,195 (GRCm39)	I330F	probably damaging	Het
Fam184b	T	C	5: 45,697,091 (GRCm39)	E691G	probably benign	Het
Fastkd1	T	A	2: 69,537,893 (GRCm39)	S230C	probably benign	Het
Gipc2	T	C	3: 151,843,215 (GRCm39)	I141V	probably damaging	Het
Hsd17b2	A	T	8: 118,485,410 (GRCm39)	D291V	probably damaging	Het
Itpr2	G	A	6: 146,292,334 (GRCm39)	A420V	possibly damaging	Het
Jag1	C	T	2: 136,927,952 (GRCm39)		probably null	Het
Minar1	A	T	9: 89,473,150 (GRCm39)		probably benign	Het
Mmp1b	T	A	9: 7,387,946 (GRCm39)	Y16F	probably benign	Het
Muc4	G	T	16: 32,754,090 (GRCm38)	R1322M	probably benign	Het
Myo9b	T	C	8: 71,801,379 (GRCm39)	I1179T	probably benign	Het
Nos1ap	A	G	1: 170,342,175 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,174,199 (GRCm39)	V702E	probably damaging	Het
Or13d1	G	A	4: 52,971,058 (GRCm39)	V146M	possibly damaging	Het
Or1j21	A	G	2: 36,684,012 (GRCm39)	I255V	probably benign	Het
Or2ag17	T	A	7: 106,389,796 (GRCm39)	R137S	probably benign	Het
Or2y10	A	C	11: 49,454,747 (GRCm39)		probably benign	Het
Or4c31	A	T	2: 88,291,696 (GRCm39)	Y4F	probably benign	Het
Or4f7	A	C	2: 111,644,126 (GRCm39)		probably benign	Het
Osmr	A	T	15: 6,873,926 (GRCm39)	L157*	probably null	Het
Pdzph1	T	C	17: 59,281,791 (GRCm39)	T164A	possibly damaging	Het
Ptn	T	C	6: 36,720,424 (GRCm39)	K43E	probably benign	Het
Rbm45	T	C	2: 76,209,051 (GRCm39)	V340A	probably damaging	Het
Rnf5	C	T	17: 34,821,083 (GRCm39)	G83E	probably damaging	Het
Scin	G	T	12: 40,126,971 (GRCm39)	Q459K	probably benign	Het
Serpina5	C	A	12: 104,071,479 (GRCm39)	A362D	probably damaging	Het
Tll1	A	T	8: 64,469,170 (GRCm39)	H984Q	probably benign	Het
Tmem259	A	G	10: 79,815,568 (GRCm39)	V81A	probably benign	Het
Tns3	A	T	11: 8,401,066 (GRCm39)	S1077R	probably benign	Het
Trgv3	G	A	13: 19,427,381 (GRCm39)	S88N	probably benign	Het
Ttc17	A	G	2: 94,153,428 (GRCm39)		probably benign	Het
Tubgcp2	T	C	7: 139,610,935 (GRCm39)	T149A	possibly damaging	Het
Ulk1	G	A	5: 110,935,738 (GRCm39)	A25V	probably damaging	Het
Vps13d	T	C	4: 144,895,110 (GRCm39)	E378G	probably damaging	Het
Vsig10	A	G	5: 117,476,479 (GRCm39)	N311S	probably benign	Het
Zfp511	T	C	7: 139,617,429 (GRCm39)	Y144H	possibly damaging	Het

Other mutations in Tex47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Tex47	APN	5	7,355,211 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Tex47	UTSW	5	7,355,011 (GRCm39)	missense	probably benign	0.34
R0648:Tex47	UTSW	5	7,355,215 (GRCm39)	missense	probably benign	0.04
R1911:Tex47	UTSW	5	7,355,022 (GRCm39)	missense	probably damaging	0.98
R2163:Tex47	UTSW	5	7,355,022 (GRCm39)	missense	probably damaging	0.98
R3690:Tex47	UTSW	5	7,354,777 (GRCm39)	intron	probably benign
R3762:Tex47	UTSW	5	7,355,529 (GRCm39)	missense	probably benign	0.01
R4423:Tex47	UTSW	5	7,355,364 (GRCm39)	missense	probably benign	0.10
R4424:Tex47	UTSW	5	7,355,364 (GRCm39)	missense	probably benign	0.10
R5107:Tex47	UTSW	5	7,354,842 (GRCm39)	missense	probably benign	0.01
R5379:Tex47	UTSW	5	7,354,843 (GRCm39)	missense	probably null	0.01
R5589:Tex47	UTSW	5	7,354,834 (GRCm39)	missense	probably benign
R6265:Tex47	UTSW	5	7,355,461 (GRCm39)	missense	probably damaging	1.00
R6325:Tex47	UTSW	5	7,354,935 (GRCm39)	nonsense	probably null
R6580:Tex47	UTSW	5	7,355,212 (GRCm39)	missense	probably damaging	1.00
R8390:Tex47	UTSW	5	7,355,301 (GRCm39)	missense	probably benign	0.00
R8889:Tex47	UTSW	5	7,355,115 (GRCm39)	missense	probably damaging	0.99
R8892:Tex47	UTSW	5	7,355,115 (GRCm39)	missense	probably damaging	0.99
R9416:Tex47	UTSW	5	7,355,194 (GRCm39)	missense	possibly damaging	0.48

Posted On

2011-07-12