Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02867:Spata24'

362372

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 #

IGL02867

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	A	5: 24,776,149 (GRCm39)	Y310F	probably benign	Het
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arel1	A	T	12: 84,981,097 (GRCm39)	N303K	probably benign	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Ccdc125	A	T	13: 100,820,790 (GRCm39)		probably benign	Het
Cxcl16	A	T	11: 70,349,892 (GRCm39)	Y45N	possibly damaging	Het
Dnajb3	T	A	1: 88,133,249 (GRCm39)	Q51L	probably benign	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fgf11	A	G	11: 69,690,498 (GRCm39)	S100P	possibly damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Fyb1	A	T	15: 6,609,527 (GRCm39)	Q33H	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Krt16	T	C	11: 100,138,402 (GRCm39)	K249E	probably damaging	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Naa35	T	C	13: 59,756,668 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or1e22	A	G	11: 73,376,817 (GRCm39)	Y278H	probably damaging	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Osbpl6	A	G	2: 76,426,214 (GRCm39)		probably benign	Het
Pramel6	A	T	2: 87,340,736 (GRCm39)	Q356L	probably damaging	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rdh11	A	G	12: 79,235,828 (GRCm39)	V40A	possibly damaging	Het
Rin1	C	T	19: 5,103,198 (GRCm39)	R485C	probably damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tas1r1	A	T	4: 152,112,735 (GRCm39)	S773T	probably damaging	Het
Trdv5	G	T	14: 54,386,429 (GRCm39)		probably benign	Het
Trpc3	A	C	3: 36,694,850 (GRCm39)	D701E	probably benign	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
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
IGL02889: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