Mutagenetix > Incidental Mutation

Incidental Mutation 'R1424:Gtsf1'

161246

Institutional Source

Beutler Lab

Gene Symbol

Gtsf1

Ensembl Gene

ENSMUSG00000022487

Gene Name

gametocyte specific factor 1

Synonyms

Cue110, 1700006H03Rik

MMRRC Submission

039480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103310885-103338872 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 103318070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 156 (Y156*)

Ref Sequence

ENSEMBL: ENSMUSP00000114244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023129] [ENSMUST00000123724] [ENSMUST00000136480] [ENSMUST00000141364] [ENSMUST00000146675] [ENSMUST00000147389] [ENSMUST00000153930]

AlphaFold

Q9DAN6

Predicted Effect

probably null
Transcript: ENSMUST00000023129
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	8.6e-15	PFAM
Pfam:zf-U11-48K	47	73	6.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123724
AA Change: Y175*

SMART Domains

Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: Y175*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	33	57	8.5e-14	PFAM
Pfam:zf-U11-48K	67	91	2.5e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136480
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	8.6e-15	PFAM
Pfam:zf-U11-48K	47	73	6.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141364
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	8.6e-15	PFAM
Pfam:zf-U11-48K	47	73	6.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146675
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	8.6e-15	PFAM
Pfam:zf-U11-48K	47	73	6.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146736
AA Change: Y182*

SMART Domains

Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: Y182*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	41	65	4e-13	PFAM
Pfam:zf-U11-48K	75	99	1.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000147389
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	3.6e-14	PFAM
Pfam:zf-U11-48K	47	73	2.7e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000153930
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: Y156*

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	8.6e-15	PFAM
Pfam:zf-U11-48K	47	73	6.4e-14	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

97% (57/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit male infertility due to arrested male meiosis and apoptosis of male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	A	12: 72,939,669 (GRCm39)	E415*	probably null	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acad12	C	T	5: 121,742,385 (GRCm39)	A408T	probably benign	Het
Acox2	T	A	14: 8,230,247 (GRCm38)	H632L	probably benign	Het
Anxa5	A	T	3: 36,506,441 (GRCm39)		probably null	Het
Ap1m2	A	T	9: 21,209,500 (GRCm39)	I392N	possibly damaging	Het
Casp2	T	C	6: 42,253,725 (GRCm39)		probably benign	Het
Cel	C	T	2: 28,449,636 (GRCm39)	A243T	probably damaging	Het
Depp1	A	G	6: 116,628,966 (GRCm39)	N103S	possibly damaging	Het
Dgka	A	T	10: 128,569,202 (GRCm39)	S177T	possibly damaging	Het
Dnajc6	A	G	4: 101,496,544 (GRCm39)	T836A	possibly damaging	Het
Dock3	T	C	9: 106,790,392 (GRCm39)	S1444G	probably damaging	Het
Dtl	T	C	1: 191,293,649 (GRCm39)	D176G	probably benign	Het
Eif4g1	T	C	16: 20,497,692 (GRCm39)	I230T	probably benign	Het
Fam227a	T	A	15: 79,518,309 (GRCm39)	I328F	probably benign	Het
Fam98a	A	G	17: 75,847,173 (GRCm39)	L179S	probably damaging	Het
Fgb	A	T	3: 82,954,070 (GRCm39)	I56N	probably damaging	Het
Fmo1	C	T	1: 162,657,635 (GRCm39)	R502Q	probably damaging	Het
Fndc3a	C	T	14: 72,811,811 (GRCm39)	A340T	probably damaging	Het
Gli3	C	A	13: 15,900,899 (GRCm39)	Q1429K	probably benign	Het
Gm3443	A	T	19: 21,534,959 (GRCm39)	I75F	possibly damaging	Het
Gtpbp6	C	T	5: 110,252,155 (GRCm39)		probably null	Het
Hmcn1	T	C	1: 150,522,545 (GRCm39)	T3452A	probably benign	Het
Kcnj10	T	A	1: 172,196,822 (GRCm39)	V112E	probably damaging	Het
Lama3	C	A	18: 12,653,048 (GRCm39)	T256K	probably benign	Het
Lrrc8d	G	A	5: 105,974,782 (GRCm39)	V63M	unknown	Het
Matn3	G	T	12: 9,011,132 (GRCm39)	A348S	possibly damaging	Het
Mmp16	A	G	4: 18,112,121 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,190,594 (GRCm39)	N175S	probably damaging	Het
Or11h4	A	T	14: 50,974,521 (GRCm39)	F33I	probably benign	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Or4c35	C	T	2: 89,808,415 (GRCm39)	Q98*	probably null	Het
Or4k5	C	A	14: 50,385,922 (GRCm39)	M136I	possibly damaging	Het
Pcdhb12	T	A	18: 37,571,132 (GRCm39)	N759K	probably benign	Het
Pcsk2	T	C	2: 143,415,348 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,906,890 (GRCm39)	D2284N	probably damaging	Het
Prdm12	C	T	2: 31,533,823 (GRCm39)	R147C	probably damaging	Het
Ptprz1	A	G	6: 23,000,382 (GRCm39)	D824G	probably benign	Het
Rere	C	T	4: 150,701,495 (GRCm39)	R1292C	probably damaging	Het
Rptor	T	A	11: 119,671,419 (GRCm39)	L294*	probably null	Het
Sbf2	A	T	7: 109,914,233 (GRCm39)	C1650S	probably damaging	Het
Sdk1	C	T	5: 142,147,621 (GRCm39)	T1751I	probably damaging	Het
Sh3bp1	T	C	15: 78,787,899 (GRCm39)		probably null	Het
Shank2	T	A	7: 143,606,109 (GRCm39)	D97E	probably damaging	Het
Tab2	A	C	10: 7,795,812 (GRCm39)	S149R	possibly damaging	Het
Taok1	G	T	11: 77,440,190 (GRCm39)	R606S	probably benign	Het
Tas2r121	A	G	6: 132,677,645 (GRCm39)	L109P	probably damaging	Het
Tmem117	A	G	15: 94,829,689 (GRCm39)	M175V	probably benign	Het
Tmprss11b	T	C	5: 86,812,832 (GRCm39)	K155E	probably benign	Het
Tmtc2	G	T	10: 105,249,229 (GRCm39)	T168N	probably benign	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tsga10ip	C	T	19: 5,440,942 (GRCm39)		probably null	Het
Tuba8	A	G	6: 121,197,470 (GRCm39)	N44S	probably benign	Het
Ube2o	A	G	11: 116,434,558 (GRCm39)	V590A	probably benign	Het
Ush2a	T	G	1: 188,275,075 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,690,229 (GRCm39)	Y368*	probably null	Het

Other mutations in Gtsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0541:Gtsf1	UTSW	15	103,329,619 (GRCm39)	missense	possibly damaging	0.92
R1194:Gtsf1	UTSW	15	103,333,901 (GRCm39)	missense	probably damaging	1.00
R2264:Gtsf1	UTSW	15	103,328,391 (GRCm39)	missense	possibly damaging	0.81
R3832:Gtsf1	UTSW	15	103,333,902 (GRCm39)	missense	probably damaging	1.00
R4666:Gtsf1	UTSW	15	103,329,632 (GRCm39)	missense	probably benign	0.35
R5514:Gtsf1	UTSW	15	103,336,802 (GRCm39)	missense	probably benign
R6555:Gtsf1	UTSW	15	103,333,902 (GRCm39)	missense	probably damaging	1.00
R6820:Gtsf1	UTSW	15	103,328,954 (GRCm39)	missense	probably benign	0.00
R7087:Gtsf1	UTSW	15	103,333,876 (GRCm39)	missense	probably damaging	1.00
R7178:Gtsf1	UTSW	15	103,328,388 (GRCm39)	missense	probably benign	0.22
R7783:Gtsf1	UTSW	15	103,336,996 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAACCACACCCTTTTGGGTTTTATGC -3'
(R):5'- TCAGATGAGTGGTAGTTGTTCCCTCC -3'

Sequencing Primer
(F):5'- aaatctgcctgcctctgtc -3'
(R):5'- GGTAGTTGTTCCCTCCATTTAAAAAC -3'

Posted On

2014-03-14