Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01663:Speer3'

103242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer3

Ensembl Gene

ENSMUSG00000067855

Gene Name

spermatogenesis associated glutamate (E)-rich protein 3

Synonyms

4933405P08Rik, SPEER-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

13841633-13846833 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 13843236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 48 (R48*)

Ref Sequence

ENSEMBL: ENSMUSP00000115668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124677]

AlphaFold

W4VSP1

Predicted Effect

probably null
Transcript: ENSMUST00000124677
AA Change: R48*

SMART Domains

Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: R48*

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	134	2.3e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199961

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,168,628 (GRCm39)	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,941,260 (GRCm39)	T376A	probably benign	Het
Aifm3	T	A	16: 17,320,650 (GRCm39)		probably null	Het
Ankrd16	A	G	2: 11,783,473 (GRCm39)	E25G	probably damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Cdh18	T	C	15: 23,446,077 (GRCm39)	I509T	possibly damaging	Het
Cdon	A	G	9: 35,394,510 (GRCm39)	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,522,916 (GRCm39)	P148L	probably damaging	Het
Dnph1	G	T	17: 46,809,408 (GRCm39)	R74L	probably benign	Het
Epha6	C	T	16: 59,596,007 (GRCm39)	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,395,845 (GRCm39)		probably benign	Het
Fbll1	A	G	11: 35,688,648 (GRCm39)	I205T	probably damaging	Het
Frem2	T	A	3: 53,424,434 (GRCm39)	H3001L	probably damaging	Het
Galk2	A	G	2: 125,825,099 (GRCm39)	N432D	probably benign	Het
Gm7535	A	C	17: 18,131,619 (GRCm39)		probably benign	Het
Il10	A	G	1: 130,949,151 (GRCm39)	E104G	probably benign	Het
Il1a	T	C	2: 129,146,637 (GRCm39)	K152R	probably benign	Het
Kdm1b	T	A	13: 47,227,213 (GRCm39)	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,515,668 (GRCm39)	L2725R	probably damaging	Het
Krba1	G	T	6: 48,388,688 (GRCm39)	L527F	probably damaging	Het
Lrp2	A	G	2: 69,259,050 (GRCm39)	S4547P	probably benign	Het
Nin	G	T	12: 70,090,439 (GRCm39)	A992E	possibly damaging	Het
Or11g7	G	A	14: 50,690,607 (GRCm39)	V33M	probably benign	Het
Or5p81	T	A	7: 108,267,098 (GRCm39)	H158Q	probably benign	Het
Pcdhb1	A	G	18: 37,400,186 (GRCm39)	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,053,143 (GRCm39)		probably null	Het
Rbm20	T	G	19: 53,829,426 (GRCm39)	V608G	probably damaging	Het
Smarcc2	C	T	10: 128,324,846 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,082,416 (GRCm39)	N720K	possibly damaging	Het
Tnfrsf21	A	T	17: 43,398,702 (GRCm39)	M603L	probably benign	Het
Ttc3	T	A	16: 94,210,590 (GRCm39)		probably null	Het
Usp4	C	A	9: 108,243,079 (GRCm39)	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,759,948 (GRCm39)	V278E	probably damaging	Het

Other mutations in Speer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Speer3	APN	5	13,843,285 (GRCm39)	missense	probably benign
IGL03192:Speer3	APN	5	13,841,702 (GRCm39)	missense	possibly damaging	0.93
IGL03301:Speer3	APN	5	13,845,447 (GRCm39)	missense	probably damaging	1.00
R1623:Speer3	UTSW	5	13,846,335 (GRCm39)	missense	probably benign
R3028:Speer3	UTSW	5	13,845,445 (GRCm39)	missense	probably damaging	0.99
R4091:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4092:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4368:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4369:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4405:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4450:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4509:Speer3	UTSW	5	13,846,368 (GRCm39)	missense	possibly damaging	0.72
R4594:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4702:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R5096:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R5508:Speer3	UTSW	5	13,844,678 (GRCm39)	missense	probably damaging	0.97
R5583:Speer3	UTSW	5	13,844,782 (GRCm39)	critical splice donor site	probably null
R6061:Speer3	UTSW	5	13,844,705 (GRCm39)	missense	possibly damaging	0.88
R6337:Speer3	UTSW	5	13,843,369 (GRCm39)	missense	probably damaging	0.96
R6518:Speer3	UTSW	5	13,845,462 (GRCm39)	missense	possibly damaging	0.66
R7503:Speer3	UTSW	5	13,843,348 (GRCm39)	missense	probably benign	0.30
R9456:Speer3	UTSW	5	13,846,368 (GRCm39)	missense

Posted On

2014-01-21