Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Gtsf1'

537590

Institutional Source

Beutler Lab

Gene Symbol

Gtsf1

Ensembl Gene

ENSMUSG00000022487

Gene Name

gametocyte specific factor 1

Synonyms

Cue110, 1700006H03Rik

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103310885-103338872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103328954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 92 (T92A)

Ref Sequence

ENSEMBL: ENSMUSP00000114244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023129] [ENSMUST00000123724] [ENSMUST00000129837] [ENSMUST00000136480] [ENSMUST00000141364] [ENSMUST00000146675] [ENSMUST00000147389] [ENSMUST00000153930]

AlphaFold

Q9DAN6

Predicted Effect

probably benign
Transcript: ENSMUST00000023129
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: T92A

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 benign
Transcript: ENSMUST00000123724
AA Change: T111A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: T111A

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 benign
Transcript: ENSMUST00000129837
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487
AA Change: T92A

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	13	39	2.4e-14	PFAM
Pfam:zf-U11-48K	47	73	1.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136480
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: T92A

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 benign
Transcript: ENSMUST00000141364
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: T92A

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 benign
Transcript: ENSMUST00000146675
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: T92A

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

SMART Domains

Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: T118A

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 benign
Transcript: ENSMUST00000147389
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: T92A

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 benign
Transcript: ENSMUST00000153930
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: T92A

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

0.0607

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dsel	A	G	1: 111,787,547 (GRCm39)	V996A	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443 (GRCm39)	Y221H	probably damaging	Het
Ubap1	C	T	4: 41,379,854 (GRCm39)	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,131,601 (GRCm39)	S139T	probably benign	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	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
R1424:Gtsf1	UTSW	15	103,318,070 (GRCm39)	nonsense	probably null
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
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'- AGGCTAGTCTATGTGTCTGCA -3'
(R):5'- GTCAGTTCTCACCCTATCCG -3'

Sequencing Primer
(F):5'- GTGTCTGCACAGTGATACAAATGTG -3'
(R):5'- TCTCACCCTATCCGTATTTAGAAAC -3'

Posted On

2018-10-18