Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Gtsf1'

558792

Institutional Source

Beutler Lab

Gene Symbol

Gtsf1

Ensembl Gene

ENSMUSG00000022487

Gene Name

gametocyte specific factor 1

Synonyms

Cue110, 1700006H03Rik

MMRRC Submission

045232-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103402405-103430470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 103419961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 130 (N130T)

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 benign
Transcript: ENSMUST00000023129
AA Change: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023129
Gene: ENSMUSG00000022487
AA Change: N130T

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: N149T

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114733
Gene: ENSMUSG00000022487
AA Change: N149T

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

SMART Domains

Protein: ENSMUSP00000115123
Gene: ENSMUSG00000022487

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: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116366
Gene: ENSMUSG00000022487
AA Change: N130T

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: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119234
Gene: ENSMUSG00000022487
AA Change: N130T

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: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122193
Gene: ENSMUSG00000022487
AA Change: N130T

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: ENSMUST00000146736
AA Change: N156T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115670
Gene: ENSMUSG00000022487
AA Change: N156T

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: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120797
Gene: ENSMUSG00000022487
AA Change: N130T

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: N130T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114244
Gene: ENSMUSG00000022487
AA Change: N130T

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,628,461	I130T	possibly damaging	Het
Adam24	T	A	8: 40,680,000	L169*	probably null	Het
Als2	A	T	1: 59,207,812	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,649,440	N212K		Het
Anpep	T	C	7: 79,840,988	D260G	probably benign	Het
Arhgap17	A	T	7: 123,285,358		probably null	Het
Atad2	C	T	15: 58,117,293	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,819,950	M696K	probably benign	Het
Atp13a2	A	G	4: 140,999,151	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,943,672	D29G	possibly damaging	Het
Baz2a	C	T	10: 128,124,457	R1514W	probably damaging	Het
Cep250	T	A	2: 155,973,455	L631*	probably null	Het
Clec4a3	T	C	6: 122,964,292	I82T	probably benign	Het
Csmd3	T	A	15: 47,590,774	I2648F		Het
Cul5	A	G	9: 53,644,526	F247L	probably benign	Het
D430042O09Rik	T	C	7: 125,866,327	V1317A	probably benign	Het
Dnajc24	A	T	2: 105,970,462	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,694,993	V1848E	probably damaging	Het
Dspp	A	G	5: 104,174,066	T14A	probably benign	Het
Fam166a	G	A	2: 25,220,240	V55I	probably damaging	Het
Fam196b	G	T	11: 34,402,359	V134F	probably damaging	Het
Gm7298	T	G	6: 121,785,896	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,709,163	S62R	unknown	Het
Heatr5a	C	A	12: 51,925,142	S755I	probably damaging	Het
Hrc	A	G	7: 45,336,261	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,233,510	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,835	S256G	probably benign	Het
Ipo13	A	G	4: 117,903,884	S546P	possibly damaging	Het
Kif24	A	G	4: 41,395,085	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,671,074	V176A	probably benign	Het
Lgi1	T	C	19: 38,306,285	Y502H	probably damaging	Het
Liph	T	A	16: 21,976,328	D178V	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mak16	A	C	8: 31,166,574	S42A	probably benign	Het
Mamdc4	T	C	2: 25,568,965	I269V	probably benign	Het
Mapk8ip3	A	T	17: 24,901,754	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788	S889T	unknown	Het
Npy6r	A	G	18: 44,276,484	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,356,147	T489P	possibly damaging	Het
Olfr1102	G	A	2: 87,002,535	V189I	probably benign	Het
Olfr187	T	A	16: 59,035,933	D268V	probably benign	Het
Olfr69	G	A	7: 103,767,975	Q141*	probably null	Het
Otof	G	C	5: 30,383,534	T887S	possibly damaging	Het
Papola	T	C	12: 105,807,184	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,715,630	H1421R	probably benign	Het
Plpp5	T	C	8: 25,720,579	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,518,337	I154L	probably benign	Het
Prr18	A	C	17: 8,341,909	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,477,259	S198F	possibly damaging	Het
Qars	T	C	9: 108,515,123	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,636,752	R185*	probably null	Het
Scn2a	C	T	2: 65,748,853	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,080,776	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,258,148	T175A	probably damaging	Het
Skiv2l	T	C	17: 34,839,464	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,667,511	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,719,482	A312V	possibly damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spcs1	G	A	14: 31,000,481	S127F	possibly damaging	Het
Speg	T	C	1: 75,422,383	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,418,056	I423F	probably damaging	Het
Synj2	T	A	17: 6,026,479	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,055,660	D45V	probably damaging	Het
Tcf3	C	A	10: 80,421,599	V11F	unknown	Het
Tead1	A	T	7: 112,841,937	Q91L	probably benign	Het
Tgm5	T	A	2: 121,085,768		probably benign	Het
Tgoln1	C	T	6: 72,616,045	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,827,539	N445K	probably benign	Het
Ttn	G	C	2: 76,710,170	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,136,162	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,996,994	L684F	probably damaging	Het
Zfp661	T	C	2: 127,577,536	D228G	probably benign	Het
Zfp738	T	C	13: 67,673,028	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,100,930	D378E	probably damaging	Het
Zswim9	T	A	7: 13,259,997	D744V	possibly damaging	Het

Other mutations in Gtsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0541:Gtsf1	UTSW	15	103421192	missense	possibly damaging	0.92
R1194:Gtsf1	UTSW	15	103425474	missense	probably damaging	1.00
R1424:Gtsf1	UTSW	15	103409643	nonsense	probably null
R2264:Gtsf1	UTSW	15	103419964	missense	possibly damaging	0.81
R3832:Gtsf1	UTSW	15	103425475	missense	probably damaging	1.00
R4666:Gtsf1	UTSW	15	103421205	missense	probably benign	0.35
R5514:Gtsf1	UTSW	15	103428375	missense	probably benign
R6555:Gtsf1	UTSW	15	103425475	missense	probably damaging	1.00
R6820:Gtsf1	UTSW	15	103420527	missense	probably benign	0.00
R7087:Gtsf1	UTSW	15	103425449	missense	probably damaging	1.00
R7783:Gtsf1	UTSW	15	103428569	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTCATTAAGATGCTCTGGATTTC -3'
(R):5'- TTACTTACACCCCTCAAAGCTTAGC -3'

Sequencing Primer
(F):5'- CACATGTGTATGAGTGTCCACAG -3'
(R):5'- TGGCAGATTTGTGGGAAC -3'

Posted On

2019-06-26