Mutagenetix > Incidental Mutation

Incidental Mutation 'R7087:Gtsf1'

549971

Institutional Source

Beutler Lab

Gene Symbol

Gtsf1

Ensembl Gene

ENSMUSG00000022487

Gene Name

gametocyte specific factor 1

Synonyms

Cue110, 1700006H03Rik

MMRRC Submission

045181-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7087 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103310885-103338872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103333876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 33 (H33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023129 (fasta)

Gene Model

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

AlphaFold

Q9DAN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023129
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: H33Q

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 damaging
Transcript: ENSMUST00000123724
AA Change: H52Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: H52Q

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 damaging
Transcript: ENSMUST00000129837
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487
AA Change: H33Q

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 damaging
Transcript: ENSMUST00000136480
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: H33Q

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 damaging
Transcript: ENSMUST00000141364
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: H33Q

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 damaging
Transcript: ENSMUST00000146675
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: H33Q

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: H59Q

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 damaging
Transcript: ENSMUST00000147389
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: H33Q

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 damaging
Transcript: ENSMUST00000153930
AA Change: H33Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: H33Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (43/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,373,870 (GRCm39)	V252D	probably damaging	Het
Adprhl1	A	G	8: 13,271,856 (GRCm39)	L1634P	probably damaging	Het
Arhgef4	A	T	1: 34,850,767 (GRCm39)	R438W	probably damaging	Het
Asb3	A	C	11: 30,948,321 (GRCm39)	K38T	probably benign	Het
Atp1a4	A	T	1: 172,074,269 (GRCm39)	L328Q	probably damaging	Het
BC030500	T	A	8: 59,365,388 (GRCm39)	I13N	unknown	Het
Cbarp	A	G	10: 79,972,242 (GRCm39)	S136P	probably damaging	Het
Ccdc18	T	A	5: 108,343,988 (GRCm39)	D910E	probably benign	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cmya5	A	G	13: 93,227,483 (GRCm39)	V2535A	probably benign	Het
Ddx39b	C	T	17: 35,472,025 (GRCm39)	R355C	probably damaging	Het
Dock10	T	C	1: 80,570,543 (GRCm39)	T338A	probably benign	Het
Dpysl3	T	C	18: 43,496,595 (GRCm39)	D147G	probably damaging	Het
Eif3i	G	T	4: 129,486,104 (GRCm39)	H284Q	probably damaging	Het
Erbb4	A	T	1: 68,779,650 (GRCm39)	L42Q	probably null	Het
Exoc3l2	A	G	7: 19,203,582 (GRCm39)	E58G		Het
Fgf18	C	T	11: 33,074,677 (GRCm39)	R98Q	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gp2	T	A	7: 119,049,455 (GRCm39)	T361S	probably damaging	Het
Hoxa4	G	A	6: 52,168,271 (GRCm39)	T133M	probably damaging	Het
Hspb7	C	A	4: 141,149,866 (GRCm39)	T84K	possibly damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Kdm7a	C	T	6: 39,152,315 (GRCm39)	R127H	probably benign	Het
Lsm10	C	T	4: 125,991,952 (GRCm39)	R103C	probably damaging	Het
Mgme1	T	C	2: 144,114,101 (GRCm39)	S68P	probably damaging	Het
Nes	G	T	3: 87,887,065 (GRCm39)	V1775L	probably benign	Het
Nfrkb	C	T	9: 31,331,228 (GRCm39)	Q1250*	probably null	Het
Or4s2	T	C	2: 88,473,197 (GRCm39)	F29L	probably damaging	Het
Phf21b	A	T	15: 84,676,033 (GRCm39)	L338H	probably damaging	Het
Pira12	G	A	7: 3,900,218 (GRCm39)	A128V	probably benign	Het
Ppp2r5b	A	G	19: 6,282,580 (GRCm39)	V190A	possibly damaging	Het
Prmt1	T	C	7: 44,631,007 (GRCm39)		probably null	Het
Rusc1	A	G	3: 88,996,799 (GRCm39)	V639A	probably damaging	Het
Slc24a2	T	A	4: 86,909,456 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,874,880 (GRCm39)	T141A	probably damaging	Het
Spta1	A	T	1: 174,002,076 (GRCm39)	M69L	probably benign	Het
St8sia5	A	C	18: 77,342,238 (GRCm39)	Q316P	possibly damaging	Het
Svs3a	T	C	2: 164,131,717 (GRCm39)	I96T	possibly damaging	Het
Syne1	T	A	10: 5,492,024 (GRCm39)		probably benign	Het
Trappc3	T	C	4: 126,166,474 (GRCm39)	S16P	probably benign	Het
Vmn2r44	A	T	7: 8,381,366 (GRCm39)	F176I	probably benign	Het
Wnk1	C	T	6: 120,014,491 (GRCm39)	E35K	possibly damaging	Het
Zfp354c	A	G	11: 50,706,040 (GRCm39)	L345P	probably damaging	Het
Zfp608	T	A	18: 55,032,469 (GRCm39)	K490N	probably damaging	Het
Zfp687	A	C	3: 94,917,524 (GRCm39)	S709A	probably benign	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
R6820:Gtsf1	UTSW	15	103,328,954 (GRCm39)	missense	probably benign	0.00
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'- TGTGATTGTACATGCCTAGATACTC -3'
(R):5'- GACTGCCTTATTCTTCAACTATGG -3'

Sequencing Primer
(F):5'- ACAATGCTTTGTTGCTAGTTAGGAG -3'
(R):5'- CCTGGACCCTGAAAAGT -3'

Posted On

2019-05-15