Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Tex44'

589364

Institutional Source

Beutler Lab

Gene Symbol

Tex44

Ensembl Gene

ENSMUSG00000036574

Gene Name

testis expressed 44

Synonyms

1700019O17Rik

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

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

Stock #

R7625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86354051-86355771 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86354459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 123 (K123*)

Ref Sequence

ENSEMBL: ENSMUSP00000136430 (fasta)

Gene Model

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

AlphaFold

Q9DA60

Predicted Effect

probably null
Transcript: ENSMUST00000046004
AA Change: K123*

SMART Domains

Protein: ENSMUSP00000136430
Gene: ENSMUSG00000036574
AA Change: K123*

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	possibly damaging	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
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'- TAGATCAAACCTCTGAGGCGAAAG -3'
(R):5'- TCTTGCCCTATGGAGGTGTC -3'

Sequencing Primer
(F):5'- GCCATCACCACAGAGCAAAATG -3'
(R):5'- CATCTGCATGGAGGGCTGATC -3'

Posted On

2019-10-24