Mutagenetix > Incidental Mutation

Incidental Mutation 'R6555:Gtsf1'

522116

Institutional Source

Beutler Lab

Gene Symbol

Gtsf1

Ensembl Gene

ENSMUSG00000022487

Gene Name

gametocyte specific factor 1

Synonyms

Cue110, 1700006H03Rik

MMRRC Submission

044680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6555 (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 103333902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 25 (I25V)

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 damaging
Transcript: ENSMUST00000023129
AA Change: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: I25V

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: I44V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: I44V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487
AA Change: I25V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: I25V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: I25V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: I25V

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

unknown
Transcript: ENSMUST00000146736
AA Change: I51V

SMART Domains

Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: I51V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: I25V

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: I25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: I25V

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

0.5867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (40/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,752,468 (GRCm39)	I480V	probably damaging	Het
Akap1	A	T	11: 88,735,708 (GRCm39)	I351N	probably damaging	Het
C1qtnf3	A	G	15: 10,975,742 (GRCm39)	M256V	probably damaging	Het
Carm1	T	A	9: 21,498,258 (GRCm39)	C421S	probably damaging	Het
Celsr2	T	C	3: 108,302,235 (GRCm39)	D2631G	probably damaging	Het
Cfap206	A	G	4: 34,719,049 (GRCm39)	V319A	probably damaging	Het
Cntnap2	T	A	6: 46,736,694 (GRCm39)	W707R	probably damaging	Het
Ctss	T	A	3: 95,450,340 (GRCm39)	L97*	probably null	Het
Eif2ak4	A	T	2: 118,258,350 (GRCm39)	N455Y	probably damaging	Het
Ercc6	G	A	14: 32,239,064 (GRCm39)	E51K	probably benign	Het
Gm10318	G	A	10: 77,688,855 (GRCm39)		probably benign	Het
Gp6	C	T	7: 4,387,929 (GRCm39)	R180Q	probably damaging	Het
Igkv1-99	A	G	6: 68,519,300 (GRCm39)	R85G	probably damaging	Het
Il36a	G	A	2: 24,114,611 (GRCm39)		probably null	Het
Iqsec3	T	C	6: 121,361,178 (GRCm39)	H935R	probably damaging	Het
Loxhd1	T	C	18: 77,380,965 (GRCm39)	V94A	possibly damaging	Het
Lrp2	T	C	2: 69,339,647 (GRCm39)	K1088R	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,823,510 (GRCm39)	N1494S	probably benign	Het
Mta3	C	T	17: 84,015,875 (GRCm39)	R26W	probably damaging	Het
Nup88	T	C	11: 70,835,006 (GRCm39)	R660G	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or4q3	G	A	14: 50,583,303 (GRCm39)	Q168*	probably null	Het
Or5d16	T	A	2: 87,773,632 (GRCm39)	E113D	probably damaging	Het
Or8b51	C	A	9: 38,569,585 (GRCm39)	M34I	probably benign	Het
Pcdhga10	A	G	18: 37,882,488 (GRCm39)	T750A	probably damaging	Het
Plxnb1	A	G	9: 108,937,473 (GRCm39)		probably null	Het
Ppip5k1	T	C	2: 121,168,093 (GRCm39)	E720G	probably damaging	Het
Pramel27	A	G	4: 143,578,140 (GRCm39)	I133M	possibly damaging	Het
Ptprn2	T	C	12: 117,190,820 (GRCm39)	Y786H	probably damaging	Het
Safb2	A	G	17: 56,874,600 (GRCm39)	V614A	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Selp	C	T	1: 163,969,171 (GRCm39)		probably null	Het
Slc16a10	T	C	10: 39,956,774 (GRCm39)	I122V	probably benign	Het
Slc22a22	G	A	15: 57,122,527 (GRCm39)	T131M	probably benign	Het
Trmt2a	A	T	16: 18,071,067 (GRCm39)	I574F	probably benign	Het
Tsen54	C	T	11: 115,711,519 (GRCm39)	T156I	probably benign	Het
Vps13b	A	G	15: 35,846,993 (GRCm39)	N2592S	probably damaging	Het
Wdr64	G	A	1: 175,547,856 (GRCm39)	R131H	probably damaging	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
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'- AGATTTGCCAAACAATCTGGC -3'
(R):5'- ACTGTACTTAGGAGCCAATGG -3'

Sequencing Primer
(F):5'- TGGCTCTTCAGAAGAACG -3'
(R):5'- GAACTCATTCTGTAGACCAGCCTGG -3'

Posted On

2018-06-06