Mutagenetix > Incidental Mutation

Incidental Mutation 'R1077:Tex44'

85672

Institutional Source

Beutler Lab

Gene Symbol

Tex44

Ensembl Gene

ENSMUSG00000036574

Gene Name

testis expressed 44

Synonyms

1700019O17Rik

MMRRC Submission

039163-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86354051-86355771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86354777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000136430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046004] [ENSMUST00000212541]

AlphaFold

Q9DA60

Predicted Effect

probably benign
Transcript: ENSMUST00000046004
AA Change: T229A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136430
Gene: ENSMUSG00000036574
AA Change: T229A

Domain	Start	End	E-Value	Type
internal_repeat_1	60	129	5.56e-9	PROSPERO
Pfam:DUF4678	147	529	4.3e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212541

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,130,770 (GRCm39)		noncoding transcript	Het
Apob	A	G	12: 8,056,017 (GRCm39)	K1500E	probably benign	Het
Atp8b1	A	T	18: 64,706,333 (GRCm39)	Y225*	probably null	Het
Cdc25c	A	T	18: 34,882,026 (GRCm39)		probably benign	Het
Ceacam15	T	C	7: 16,406,000 (GRCm39)	N184D	probably benign	Het
Cntln	T	C	4: 84,914,716 (GRCm39)	S508P	probably damaging	Het
Defa41	T	A	8: 21,692,449 (GRCm39)	F90Y	probably benign	Het
Dhx34	A	G	7: 15,952,293 (GRCm39)	S111P	probably damaging	Het
Dst	A	G	1: 34,203,248 (GRCm39)	E759G	probably damaging	Het
Fis1	G	A	5: 136,994,000 (GRCm39)	A28T	probably damaging	Het
Fsd1	T	C	17: 56,297,542 (GRCm39)		probably null	Het
Grk6	T	C	13: 55,602,340 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,794 (GRCm39)	H228Q	probably benign	Het
Kcnh4	C	T	11: 100,643,164 (GRCm39)	V368I	possibly damaging	Het
Kdr	T	C	5: 76,116,891 (GRCm39)	E728G	probably damaging	Het
Krt33a	T	A	11: 99,906,763 (GRCm39)	M71L	probably benign	Het
Lrrc7	T	G	3: 157,866,780 (GRCm39)	D987A	probably damaging	Het
Naalad2	C	T	9: 18,258,802 (GRCm39)	R491Q	probably damaging	Het
Nedd4l	A	T	18: 65,300,570 (GRCm39)		probably benign	Het
Pramel7	A	G	2: 87,321,534 (GRCm39)	L167S	probably damaging	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Psg18	G	A	7: 18,085,000 (GRCm39)	T32I	possibly damaging	Het
Ric8b	T	A	10: 84,806,581 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,376,824 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,082,373 (GRCm39)	V1433A	probably damaging	Het
Sbf2	A	T	7: 109,966,379 (GRCm39)		probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sfta2	T	C	17: 35,961,019 (GRCm39)		probably benign	Het
Slc17a1	T	A	13: 24,062,433 (GRCm39)		probably benign	Het
Slc6a21	G	A	7: 44,937,626 (GRCm39)	C314Y	probably benign	Het
Smpd4	T	C	16: 17,441,833 (GRCm39)	V35A	probably damaging	Het
Sorl1	T	C	9: 41,925,786 (GRCm39)	D1182G	probably damaging	Het
Syne2	A	G	12: 76,088,809 (GRCm39)	I5056V	possibly damaging	Het
Tex14	T	C	11: 87,410,571 (GRCm39)		probably benign	Het
Tfap2b	T	A	1: 19,304,373 (GRCm39)	C394*	probably null	Het
Ttk	T	A	9: 83,726,202 (GRCm39)		probably benign	Het
Vmn2r26	G	A	6: 124,030,872 (GRCm39)	V536I	probably benign	Het
Wac	A	G	18: 7,921,916 (GRCm39)	T553A	probably damaging	Het
Wdcp	T	A	12: 4,900,685 (GRCm39)	H180Q	probably damaging	Het
Wdr33	A	G	18: 31,968,514 (GRCm39)	H235R	probably benign	Het

Other mutations in Tex44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02579:Tex44	APN	1	86,354,169 (GRCm39)	missense	probably benign	0.00
IGL02683:Tex44	APN	1	86,355,465 (GRCm39)	missense	probably benign	0.01
R0589:Tex44	UTSW	1	86,355,453 (GRCm39)	missense	probably damaging	1.00
R1468:Tex44	UTSW	1	86,354,834 (GRCm39)	missense	probably benign	0.16
R1468:Tex44	UTSW	1	86,354,834 (GRCm39)	missense	probably benign	0.16
R1483:Tex44	UTSW	1	86,354,908 (GRCm39)	missense	probably damaging	0.99
R1485:Tex44	UTSW	1	86,355,640 (GRCm39)	missense	possibly damaging	0.72
R1527:Tex44	UTSW	1	86,355,368 (GRCm39)	missense	probably benign	0.01
R2058:Tex44	UTSW	1	86,354,728 (GRCm39)	missense	probably damaging	1.00
R2126:Tex44	UTSW	1	86,354,811 (GRCm39)	missense	probably benign	0.04
R4394:Tex44	UTSW	1	86,355,489 (GRCm39)	missense	probably benign	0.16
R4524:Tex44	UTSW	1	86,355,298 (GRCm39)	missense	probably benign	0.03
R6191:Tex44	UTSW	1	86,354,306 (GRCm39)	unclassified	probably benign
R6658:Tex44	UTSW	1	86,354,751 (GRCm39)	missense	probably benign	0.01
R6731:Tex44	UTSW	1	86,354,207 (GRCm39)	missense	probably benign	0.04
R7526:Tex44	UTSW	1	86,354,237 (GRCm39)	missense	probably benign	0.33
R7625:Tex44	UTSW	1	86,354,459 (GRCm39)	nonsense	probably null
R8251:Tex44	UTSW	1	86,354,936 (GRCm39)	missense	probably benign	0.05
R8446:Tex44	UTSW	1	86,354,696 (GRCm39)	missense	possibly damaging	0.92
R9369:Tex44	UTSW	1	86,355,383 (GRCm39)	missense	probably damaging	1.00
R9625:Tex44	UTSW	1	86,354,253 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACCTTGATGGGACAGGATGAAGAC -3'
(R):5'- AGGCAGGTTAGATAGCACGTCAGC -3'

Sequencing Primer
(F):5'- TGAAGACCAGGCATCTTTGC -3'
(R):5'- TAGCACGTCAGCATTTGGAAC -3'

Posted On

2013-11-18