Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Tex44'

725072

Institutional Source

Beutler Lab

Gene Symbol

Tex44

Ensembl Gene

ENSMUSG00000036574

Gene Name

testis expressed 44

Synonyms

1700019O17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86354051-86355771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86354253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 54 (I54T)

Ref Sequence

ENSEMBL: ENSMUSP00000136430 (fasta)

Gene Model

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

AlphaFold

Q9DA60

Predicted Effect

unknown
Transcript: ENSMUST00000046004
AA Change: I54T

SMART Domains

Protein: ENSMUSP00000136430
Gene: ENSMUSG00000036574
AA Change: I54T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	G	3: 121,465,033 (GRCm39)	E23G	unknown	Het
Abhd5	A	G	9: 122,208,606 (GRCm39)	Y332C	probably damaging	Het
Adcyap1r1	A	T	6: 55,457,055 (GRCm39)	E262V	probably damaging	Het
Adgre5	A	G	8: 84,450,658 (GRCm39)	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,654,707 (GRCm39)	Y78F	possibly damaging	Het
Asl	G	A	5: 130,047,693 (GRCm39)	A91V	probably damaging	Het
Cd40	A	T	2: 164,905,061 (GRCm39)	I126F	probably benign	Het
Ceacam10	A	G	7: 24,476,705 (GRCm39)	E2G	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntnap3	A	T	13: 65,006,579 (GRCm39)	S78T	probably damaging	Het
Cntnap4	T	C	8: 113,602,181 (GRCm39)	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 38,947,874 (GRCm39)	S198P	probably damaging	Het
Dcaf7	T	G	11: 105,942,794 (GRCm39)		probably null	Het
Dhx16	A	G	17: 36,193,413 (GRCm39)	E252G	probably benign	Het
Efcab2	C	T	1: 178,302,505 (GRCm39)	T83I	possibly damaging	Het
Efhc1	A	G	1: 21,049,738 (GRCm39)	N533D	probably benign	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Fam171b	A	T	2: 83,683,914 (GRCm39)	T144S	probably damaging	Het
Fam98a	A	G	17: 75,845,474 (GRCm39)	F424S	unknown	Het
Gm3573	T	C	14: 42,011,605 (GRCm39)	R42G	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,218,975 (GRCm39)	P23S	probably benign	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,256,810 (GRCm39)	A53V	probably benign	Het
Kalrn	T	A	16: 33,849,197 (GRCm39)		probably null	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kif1a	C	T	1: 93,000,766 (GRCm39)	E287K	probably benign	Het
Lrrk1	A	T	7: 65,909,666 (GRCm39)	*2015K	probably null	Het
Ltbp1	G	T	17: 75,486,157 (GRCm39)	G61C	probably damaging	Het
Mthfd2l	A	G	5: 91,107,567 (GRCm39)	H143R	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,345,643 (GRCm39)	Q568L	probably damaging	Het
Ncoa3	G	A	2: 165,899,130 (GRCm39)	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,434,925 (GRCm39)	D495V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp14	A	G	7: 106,782,169 (GRCm39)	I455M	probably benign	Het
Npb	T	C	11: 120,499,375 (GRCm39)	L14P	probably damaging	Het
Or51f1	C	T	7: 102,505,636 (GRCm39)	M284I	probably benign	Het
P2ry12	G	A	3: 59,125,496 (GRCm39)	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,419 (GRCm39)	L403*	probably null	Het
Phb2	G	A	6: 124,690,974 (GRCm39)	R44H	probably damaging	Het
Plekha5	A	T	6: 140,372,253 (GRCm39)	T68S	probably benign	Het
Ptprg	C	T	14: 12,152,027 (GRCm38)	R447W	probably damaging	Het
Ptprk	T	C	10: 28,462,006 (GRCm39)	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,371,873 (GRCm39)	C630F	probably damaging	Het
Rrp15	G	T	1: 186,453,718 (GRCm39)	P243Q	possibly damaging	Het
Smurf1	A	G	5: 144,830,920 (GRCm39)	F285S	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Tom1l2	A	G	11: 60,161,277 (GRCm39)	V78A	probably damaging	Het
Vps11	A	G	9: 44,265,738 (GRCm39)	W514R	probably damaging	Het
Wnk2	C	A	13: 49,254,445 (GRCm39)	V357L	probably benign	Het
Zfp970	C	T	2: 177,167,790 (GRCm39)	Q455*	probably null	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
R1077:Tex44	UTSW	1	86,354,777 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- CAACCACCATAAGTAGCAGGGG -3'
(R):5'- AGGCCTGGTCTTTATCCTGC -3'

Sequencing Primer
(F):5'- GGCATAGATGACCGCTGAGC -3'
(R):5'- AATCTGCATGTACGCCTGG -3'

Posted On

2022-09-12