Mutagenetix > Incidental Mutation

Incidental Mutation 'R9456:Speer3'

714575

Institutional Source

Beutler Lab

Gene Symbol

Speer3

Ensembl Gene

ENSMUSG00000067855

Gene Name

spermatogenesis associated glutamate (E)-rich protein 3

Synonyms

4933405P08Rik, SPEER-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9456 (G1)

Quality Score

171.009

Status

Not validated

Chromosome

Chromosomal Location

13841633-13846833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13846368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 229 (N229K)

Ref Sequence

ENSEMBL: ENSMUSP00000115668 (fasta)

Gene Model

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

AlphaFold

W4VSP1

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: N229K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,645,121 (GRCm39)	D391G	probably benign	Het
Arhgdia	A	C	11: 120,470,068 (GRCm39)	W202G	probably damaging	Het
Atp2a3	A	T	11: 72,871,131 (GRCm39)	D575V	probably benign	Het
Cep350	C	A	1: 155,744,457 (GRCm39)	V2121L	probably benign	Het
Clcn2	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 20,534,702 (GRCm39)		probably benign	Het
Cldn9	A	T	17: 23,902,556 (GRCm39)	V23E	probably damaging	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Cmbl	A	G	15: 31,589,948 (GRCm39)	D226G	probably damaging	Het
Dennd4b	C	T	3: 90,178,515 (GRCm39)	T537I	probably damaging	Het
Dnah7b	C	A	1: 46,165,953 (GRCm39)	D539E	possibly damaging	Het
Fam219a	T	C	4: 41,521,871 (GRCm39)	T70A	probably damaging	Het
Fat4	T	A	3: 38,942,571 (GRCm39)	V488E	possibly damaging	Het
Gm3336	A	G	8: 71,174,740 (GRCm39)	*96W	probably null	Het
Hectd1	A	G	12: 51,832,584 (GRCm39)	I930T	probably benign	Het
Hmcn1	A	T	1: 150,506,053 (GRCm39)	C3824*	probably null	Het
Ift140	T	C	17: 25,254,758 (GRCm39)	F413L	probably benign	Het
Itfg1	A	G	8: 86,565,566 (GRCm39)	V90A	probably benign	Het
Jph4	A	T	14: 55,351,090 (GRCm39)	W309R	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Klhl5	T	C	5: 65,305,939 (GRCm39)	F302S	probably damaging	Het
Klk1b8	T	C	7: 43,453,177 (GRCm39)	M256T	probably benign	Het
Klre1	A	T	6: 129,559,368 (GRCm39)	R99S	probably benign	Het
Krt79	T	C	15: 101,839,904 (GRCm39)	T364A	probably benign	Het
Lin7a	C	T	10: 107,218,483 (GRCm39)	P131L	possibly damaging	Het
Lrrc49	A	G	9: 60,594,699 (GRCm39)	Y9H	probably benign	Het
Lrrc8a	T	A	2: 30,145,663 (GRCm39)	I159N	probably damaging	Het
Mdga2	T	C	12: 66,615,532 (GRCm39)	S692G	probably benign	Het
Myo15a	G	A	11: 60,392,668 (GRCm39)	V1017M		Het
Nol4	T	C	18: 23,172,897 (GRCm39)	D68G	probably benign	Het
Or4f53	T	C	2: 111,088,348 (GRCm39)	V296A	probably benign	Het
Or6c75	T	C	10: 129,337,515 (GRCm39)	V254A	probably damaging	Het
Pigw	C	A	11: 84,768,040 (GRCm39)	A430S	probably benign	Het
Pla2g4c	T	C	7: 13,077,900 (GRCm39)	L356P	probably damaging	Het
Prorp	T	C	12: 55,385,015 (GRCm39)	V410A	probably damaging	Het
Prr5	A	G	15: 84,585,682 (GRCm39)	T226A	probably benign	Het
Pygo1	C	T	9: 72,833,056 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,779,286 (GRCm39)	I333T	possibly damaging	Het
Septin3	A	G	15: 82,167,352 (GRCm39)	I86V	probably benign	Het
Slc30a3	AGGGCTTACCTGAGCGG	AGG	5: 31,246,889 (GRCm39)		probably null	Het
Socs5	C	A	17: 87,442,266 (GRCm39)	T402K	probably damaging	Het
Stk16	T	C	1: 75,187,804 (GRCm39)		probably benign	Het
Taar7d	T	A	10: 23,903,287 (GRCm39)	F56L	probably benign	Het
Tmprss2	C	T	16: 97,392,669 (GRCm39)	V93I	probably benign	Het
Tnpo2	G	A	8: 85,774,015 (GRCm39)	E350K	probably benign	Het
Tor1aip2	C	T	1: 155,937,525 (GRCm39)	P87S	possibly damaging	Het
Trgv7	A	T	13: 19,362,385 (GRCm39)	R25*	probably null	Het
Ush2a	A	G	1: 188,558,589 (GRCm39)	E3606G	probably benign	Het
Zeb1	C	T	18: 5,766,709 (GRCm39)	Q407*	probably null	Het
Zfp609	A	G	9: 65,611,125 (GRCm39)	S613P		Het
Zfp735	A	G	11: 73,602,403 (GRCm39)	N449S	possibly damaging	Het

Other mutations in Speer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Speer3	APN	5	13,843,236 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TTGACATTTTGCCCTGCATG -3'
(R):5'- TCACCTCAGTCCTCACTCAAGG -3'

Sequencing Primer
(F):5'- TTGCCCTGCATGTATAGAACAGC -3'
(R):5'- CAGTCCTCACTCAAGGGGTGTTG -3'

Posted On

2022-06-15