Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02889:Spata24'

363109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata24

Ensembl Gene

ENSMUSG00000024352

Gene Name

spermatogenesis associated 24

Synonyms

4930583E11Rik, 5133400G04Rik, TIPT, TIPT2, 2700012K08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

IGL02889

Quality Score

Status

Chromosome

Chromosomal Location

35789742-35795239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35789805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 194 (R194L)

Ref Sequence

ENSEMBL: ENSMUSP00000025209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000096573] [ENSMUST00000097619] [ENSMUST00000190196]

AlphaFold

Q6P926

Predicted Effect

probably benign
Transcript: ENSMUST00000025209
AA Change: R194L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352
AA Change: R194L

Domain	Start	End	E-Value	Type
Pfam:SPATA24	10	191	1.5e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096573

SMART Domains

Protein: ENSMUSP00000094324
Gene: ENSMUSG00000024352

Domain	Start	End	E-Value	Type
Pfam:SPATA24	49	169	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097619

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600

Domain	Start	End	E-Value	Type
low complexity region	78	102	N/A	INTRINSIC
low complexity region	142	155	N/A	INTRINSIC
low complexity region	207	223	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	536	553	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
Pfam:DUF4585	862	931	4.6e-27	PFAM
low complexity region	989	1002	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186951

Predicted Effect

probably benign
Transcript: ENSMUST00000190196

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
low complexity region	146	159	N/A	INTRINSIC
low complexity region	211	227	N/A	INTRINSIC
low complexity region	381	400	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	833	852	N/A	INTRINSIC
Pfam:DUF4585	864	936	7.5e-27	PFAM
low complexity region	993	1006	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Amdhd2	A	G	17: 24,376,761 (GRCm39)	L308P	probably damaging	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arg1	A	T	10: 24,791,653 (GRCm39)	M276K	probably damaging	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Btnl9	A	T	11: 49,069,604 (GRCm39)	V225E	probably damaging	Het
Col1a1	T	C	11: 94,842,335 (GRCm39)	Y1418H	unknown	Het
Ct45a	C	A	X: 55,592,551 (GRCm39)	K19N	probably damaging	Het
Dhx57	A	T	17: 80,554,581 (GRCm39)	I1162K	possibly damaging	Het
Dmgdh	T	C	13: 93,852,185 (GRCm39)		probably null	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fli1	A	G	9: 32,376,992 (GRCm39)	I92T	probably damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Glp1r	T	A	17: 31,150,118 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Ifitm3	C	T	7: 140,589,792 (GRCm39)	R87Q	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Itgb4	T	A	11: 115,879,731 (GRCm39)	C628S	probably damaging	Het
Itprid1	A	T	6: 55,878,443 (GRCm39)	D402V	possibly damaging	Het
Kcnh3	A	T	15: 99,124,991 (GRCm39)	E147V	probably null	Het
Krtap19-4	T	C	16: 88,681,944 (GRCm39)	Y4C	unknown	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Sebox	T	C	11: 78,395,156 (GRCm39)	V166A	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tbx4	T	A	11: 85,790,621 (GRCm39)	Y154*	probably null	Het
Trim24	G	A	6: 37,934,696 (GRCm39)	E768K	probably benign	Het
Ttn	A	G	2: 76,562,304 (GRCm39)	V28847A	possibly damaging	Het
Utp6	T	A	11: 79,839,896 (GRCm39)	Q264L	possibly damaging	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Wnt11	G	A	7: 98,499,566 (GRCm39)	A244T	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	Het

Other mutations in Spata24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02867:Spata24	APN	18	35,789,805 (GRCm39)	missense	probably benign
R0044:Spata24	UTSW	18	35,789,887 (GRCm39)	missense	probably damaging	1.00
R0044:Spata24	UTSW	18	35,789,887 (GRCm39)	missense	probably damaging	1.00
R0136:Spata24	UTSW	18	35,793,515 (GRCm39)	missense	probably damaging	1.00
R6135:Spata24	UTSW	18	35,793,503 (GRCm39)	missense	probably damaging	1.00
R6238:Spata24	UTSW	18	35,793,389 (GRCm39)	missense	possibly damaging	0.85
R7962:Spata24	UTSW	18	35,795,093 (GRCm39)	missense	probably damaging	0.99
R8312:Spata24	UTSW	18	35,793,861 (GRCm39)	missense	probably benign	0.07
R9090:Spata24	UTSW	18	35,790,054 (GRCm39)	missense	probably damaging	0.98
R9271:Spata24	UTSW	18	35,790,054 (GRCm39)	missense	probably damaging	0.98
R9324:Spata24	UTSW	18	35,790,064 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18