Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03193:Tnp1'

412713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnp1

Ensembl Gene

ENSMUSG00000026182

Gene Name

transition protein 1

Synonyms

Tp-1, Stp-1, TP1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03193

Quality Score

Status

Chromosome

Chromosomal Location

73054233-73055058 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73054923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 34 (R34W)

Ref Sequence

ENSEMBL: ENSMUSP00000027374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027374]

AlphaFold

P10856

Predicted Effect

probably damaging
Transcript: ENSMUST00000027374
AA Change: R34W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027374
Gene: ENSMUSG00000026182
AA Change: R34W

Domain	Start	End	E-Value	Type
Pfam:TP1	2	52	1.7e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191122

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: A portion of male homozygous null mice are infertile, exhibting defects in spermatogenesis and sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Arhgef12	T	C	9: 42,903,829 (GRCm39)		probably benign	Het
Bmper	C	A	9: 23,277,544 (GRCm39)	H211Q	possibly damaging	Het
C130074G19Rik	A	T	1: 184,614,899 (GRCm39)	L97Q	probably damaging	Het
Csmd3	A	T	15: 47,492,626 (GRCm39)		probably benign	Het
Cyb561a3	T	C	19: 10,559,764 (GRCm39)	Y30H	probably benign	Het
Cyp2a22	T	A	7: 26,635,846 (GRCm39)	D239V	probably benign	Het
Fras1	A	T	5: 96,925,965 (GRCm39)	Y3723F	probably damaging	Het
Frem1	C	T	4: 82,912,263 (GRCm39)		probably benign	Het
Gm382	G	A	X: 125,971,321 (GRCm39)	A1169T	probably damaging	Het
Golga2	T	C	2: 32,195,020 (GRCm39)	L696P	probably damaging	Het
Gse1	G	T	8: 121,298,079 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,309,962 (GRCm39)	L1104P	probably benign	Het
Myh14	A	G	7: 44,279,369 (GRCm39)	V945A	possibly damaging	Het
Myo7a	A	G	7: 97,740,264 (GRCm39)	F577L	probably damaging	Het
Ndst2	A	T	14: 20,779,917 (GRCm39)	S108T	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Neo1	T	C	9: 58,815,767 (GRCm39)	Y836C	probably damaging	Het
Nlrp4e	T	C	7: 23,020,251 (GRCm39)	L246P	probably damaging	Het
Or52n2	A	G	7: 104,542,263 (GRCm39)	C191R	probably benign	Het
Osbpl9	A	G	4: 108,924,163 (GRCm39)	S471P	possibly damaging	Het
Patl1	T	A	19: 11,898,204 (GRCm39)	D127E	possibly damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Prlr	T	A	15: 10,328,376 (GRCm39)	S284T	possibly damaging	Het
Prps2	A	T	X: 166,157,080 (GRCm39)	N75K	possibly damaging	Het
Sec16b	A	T	1: 157,362,963 (GRCm39)	M265L	probably benign	Het
Slc9a2	G	T	1: 40,795,431 (GRCm39)	V511L	probably benign	Het
Tm9sf5	A	G	X: 56,463,503 (GRCm39)		probably benign	Het
Tpr	A	G	1: 150,315,831 (GRCm39)	D2036G	possibly damaging	Het
Trpm6	T	C	19: 18,803,236 (GRCm39)	V893A	possibly damaging	Het
Tshb	T	C	3: 102,685,515 (GRCm39)	Y38C	probably damaging	Het
Usp17lb	A	T	7: 104,490,484 (GRCm39)	S148T	possibly damaging	Het

Other mutations in Tnp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Tnp1	APN	1	73,054,877 (GRCm39)	splice site	probably benign

Posted On

2016-08-02