Mutagenetix > Incidental Mutation

Incidental Mutation 'R0409:Tex56'

36536

Institutional Source

Beutler Lab

Gene Symbol

Tex56

Ensembl Gene

ENSMUSG00000021415

Gene Name

testis expressed 56

Synonyms

4933417A18Rik

MMRRC Submission

038611-MU

Accession Numbers

Essential gene?

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

Stock #

R0409 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

35108392-35139858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35108532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 5 (I5L)

Ref Sequence

ENSEMBL: ENSMUSP00000125206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000160279] [ENSMUST00000160905] [ENSMUST00000223834]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021851

SMART Domains

Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:FAM217	206	411	2e-54	PFAM
low complexity region	425	436	N/A	INTRINSIC
low complexity region	444	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160279
AA Change: I5L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125324
Gene: ENSMUSG00000021415
AA Change: I5L

Domain	Start	End	E-Value	Type
Pfam:DUF4523	34	199	1.1e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160905
AA Change: I5L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125206
Gene: ENSMUSG00000021415
AA Change: I5L

Domain	Start	End	E-Value	Type
Pfam:DUF4523	34	199	9.5e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223834

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,816 (GRCm39)	A89S	probably damaging	Het
Alkbh3	T	A	2: 93,831,793 (GRCm39)	I146F	possibly damaging	Het
Aox1	A	T	1: 58,375,783 (GRCm39)	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,385 (GRCm39)	V509G	possibly damaging	Het
Car7	G	A	8: 105,275,056 (GRCm39)	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,535,423 (GRCm39)	V271A	probably benign	Het
Cdc40	G	T	10: 40,723,164 (GRCm39)	H302N	probably damaging	Het
Cep104	C	T	4: 154,067,510 (GRCm39)		probably benign	Het
Cfap54	C	A	10: 92,612,075 (GRCm39)	S3161I	probably benign	Het
Chil5	A	G	3: 105,942,282 (GRCm39)		probably benign	Het
Chil6	C	T	3: 106,311,492 (GRCm39)	G96D	probably benign	Het
Cnot1	T	C	8: 96,475,483 (GRCm39)	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Disp3	T	G	4: 148,356,416 (GRCm39)	E148A	probably damaging	Het
Eps8l2	A	G	7: 140,922,893 (GRCm39)	Y52C	probably damaging	Het
Exph5	C	A	9: 53,285,643 (GRCm39)	T908K	probably benign	Het
Fat4	C	T	3: 39,031,562 (GRCm39)	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751 (GRCm39)	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,503 (GRCm39)	A235T	probably benign	Het
Fnip1	A	G	11: 54,371,180 (GRCm39)		probably null	Het
Fsd1l	T	C	4: 53,679,932 (GRCm39)	L210P	probably benign	Het
Gm6420	A	C	1: 23,295,119 (GRCm39)	S123R	unknown	Het
Gm8801	T	G	17: 36,258,268 (GRCm39)		noncoding transcript	Het
Gmfb	T	C	14: 47,053,679 (GRCm39)	I36V	probably benign	Het
Gsap	G	A	5: 21,427,443 (GRCm39)		probably benign	Het
Hectd1	T	A	12: 51,829,339 (GRCm39)	I969L	possibly damaging	Het
Il21r	G	T	7: 125,229,012 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,867,063 (GRCm39)	F893L	possibly damaging	Het
Map2	A	G	1: 66,472,739 (GRCm39)	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,287,628 (GRCm39)	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,549,810 (GRCm39)	D1127G	probably benign	Het
Noc3l	A	G	19: 38,806,371 (GRCm39)		probably benign	Het
Nup93	A	G	8: 95,030,293 (GRCm39)	D384G	probably damaging	Het
Or5m9b	T	A	2: 85,905,646 (GRCm39)	C187*	probably null	Het
Or5p54	T	C	7: 107,554,433 (GRCm39)	I195T	probably benign	Het
Or8b40	C	T	9: 38,027,547 (GRCm39)	L152F	probably benign	Het
Pls1	A	T	9: 95,668,972 (GRCm39)		probably benign	Het
Prkcb	A	T	7: 122,024,200 (GRCm39)	H75L	probably damaging	Het
Rev1	A	T	1: 38,113,449 (GRCm39)	Y539*	probably null	Het
Rnf10	A	T	5: 115,393,506 (GRCm39)		probably benign	Het
Rnpepl1	A	G	1: 92,843,582 (GRCm39)	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,741,717 (GRCm39)		probably benign	Het
Sec23b	T	A	2: 144,409,832 (GRCm39)	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,755 (GRCm39)	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,257,228 (GRCm39)	R799L	probably benign	Het
Spata31g1	A	C	4: 42,972,203 (GRCm39)	K512T	probably damaging	Het
Tctn3	T	C	19: 40,599,860 (GRCm39)		probably benign	Het
Tfpt	G	A	7: 3,623,898 (GRCm39)	Q50*	probably null	Het
Trim80	T	C	11: 115,332,039 (GRCm39)	V77A	probably damaging	Het
Trp73	T	A	4: 154,148,841 (GRCm39)	D256V	possibly damaging	Het
Utrn	G	T	10: 12,519,345 (GRCm39)	N2202K	probably benign	Het
Vps13c	T	A	9: 67,858,926 (GRCm39)	F2792Y	probably benign	Het

Other mutations in Tex56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Tex56	APN	13	35,108,516 (GRCm39)	splice site	probably null
IGL02726:Tex56	APN	13	35,136,943 (GRCm39)	intron	probably benign
IGL03241:Tex56	APN	13	35,128,313 (GRCm39)	missense	probably damaging	0.98
R0324:Tex56	UTSW	13	35,108,596 (GRCm39)	missense	probably benign
R0394:Tex56	UTSW	13	35,116,636 (GRCm39)	splice site	probably benign
R1639:Tex56	UTSW	13	35,128,233 (GRCm39)	missense	possibly damaging	0.93
R1861:Tex56	UTSW	13	35,116,490 (GRCm39)	missense	possibly damaging	0.80
R2054:Tex56	UTSW	13	35,108,574 (GRCm39)	missense	probably damaging	0.99
R4625:Tex56	UTSW	13	35,116,448 (GRCm39)	missense	probably damaging	1.00
R4932:Tex56	UTSW	13	35,116,613 (GRCm39)	missense	possibly damaging	0.95
R5875:Tex56	UTSW	13	35,116,429 (GRCm39)	missense	probably damaging	0.99
R7837:Tex56	UTSW	13	35,128,359 (GRCm39)	missense	possibly damaging	0.85
R8836:Tex56	UTSW	13	35,116,526 (GRCm39)	missense	probably damaging	0.99
R9266:Tex56	UTSW	13	35,116,569 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTTCTCAGGGTTCCAGGCCAATAC -3'
(R):5'- AGAGGAGGGTTCACATCACCATGC -3'

Sequencing Primer
(F):5'- AATACCTGGGCCATTGTGAC -3'
(R):5'- GTAAGCACTCTCCCTACATACATTTG -3'

Posted On

2013-05-09