Mutagenetix > Incidental Mutation

Incidental Mutation 'R9685:Speer4a3'

728786

Institutional Source

Beutler Lab

Gene Symbol

Speer4a3

Ensembl Gene

ENSMUSG00000095550

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4A3

Synonyms

Gm21671

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9685 (G1)

Quality Score

114.467

Status

Not validated

Chromosome

Chromosomal Location

26154795-26159342 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AACT to A at 26155849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162387]

AlphaFold

G3UY31

Predicted Effect

probably benign
Transcript: ENSMUST00000162387

SMART Domains

Protein: ENSMUSP00000133924
Gene: ENSMUSG00000095550

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	2.4e-25	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	G	T	16: 64,586,823 (GRCm39)	N300K	possibly damaging	Het
A130010J15Rik	G	A	1: 192,857,065 (GRCm39)	R139H	probably benign	Het
Aanat	A	C	11: 116,487,681 (GRCm39)	T127P	possibly damaging	Het
Acp4	G	A	7: 43,906,733 (GRCm39)		probably benign	Het
Arhgef5	T	G	6: 43,250,527 (GRCm39)	I426S	probably benign	Het
Bcl2a1a	T	C	9: 88,839,185 (GRCm39)	S28P	probably benign	Het
Cd163	T	C	6: 124,288,384 (GRCm39)	S272P	possibly damaging	Het
Cdk13	C	A	13: 17,978,542 (GRCm39)	R232L	unknown	Het
Clrn2	A	G	5: 45,611,331 (GRCm39)	D60G	possibly damaging	Het
Cnot6l	A	G	5: 96,230,749 (GRCm39)	L406P	probably damaging	Het
Cspg4	T	G	9: 56,797,622 (GRCm39)	V1362G	probably benign	Het
Cspp1	C	T	1: 10,196,639 (GRCm39)	S939L	probably benign	Het
Dcaf1	C	T	9: 106,713,818 (GRCm39)	T145I	probably benign	Het
Ddx28	T	C	8: 106,736,733 (GRCm39)	S442G	probably benign	Het
Dnajc3	A	T	14: 119,209,775 (GRCm39)	R283S	probably benign	Het
Dsc1	G	A	18: 20,232,087 (GRCm39)	T307I	possibly damaging	Het
Elovl5	T	C	9: 77,868,291 (GRCm39)	Y68H	probably damaging	Het
Fam25a	G	A	14: 34,077,266 (GRCm39)	T17I	probably damaging	Het
Fryl	T	C	5: 73,216,879 (GRCm39)	E2137G	probably damaging	Het
Gm10142	A	G	10: 77,551,762 (GRCm39)	Q41R	unknown	Het
Grm1	T	C	10: 10,564,775 (GRCm39)	T1178A	possibly damaging	Het
Hhip	A	T	8: 80,723,363 (GRCm39)	H430Q	probably damaging	Het
Hip1	A	G	5: 135,478,676 (GRCm39)	F178L	probably damaging	Het
Impa1	T	A	3: 10,393,430 (GRCm39)	I58L	probably benign	Het
Irak4	T	A	15: 94,451,812 (GRCm39)	V135E	probably benign	Het
Jup	A	C	11: 100,274,237 (GRCm39)	L151R	probably damaging	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Mapkbp1	C	A	2: 119,851,664 (GRCm39)	R863S	probably benign	Het
Or8k16	T	C	2: 85,519,866 (GRCm39)	F31S	probably damaging	Het
Pramel14	T	A	4: 143,719,520 (GRCm39)	M282L	probably benign	Het
Rasa4	A	G	5: 136,124,383 (GRCm39)	D144G	probably benign	Het
Rrs1	T	A	1: 9,616,390 (GRCm39)	S214R	probably benign	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtca	T	A	3: 116,293,225 (GRCm39)	R195S	probably benign	Het
Scaper	A	T	9: 55,771,835 (GRCm39)	S360R	probably benign	Het
Scarb1	A	T	5: 125,371,194 (GRCm39)	F293I	possibly damaging	Het
Snapc1	T	C	12: 74,017,115 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,032,925 (GRCm39)	V994A	probably damaging	Het
Synpo2	T	C	3: 122,911,366 (GRCm39)	E93G	probably damaging	Het
Ubr4	A	G	4: 139,191,341 (GRCm39)	T985A	unknown	Het
Vmn1r18	T	C	6: 57,367,463 (GRCm39)	I30M	possibly damaging	Het
Vmn2r15	A	G	5: 109,440,598 (GRCm39)	V420A	probably benign	Het
Vmn2r6	A	G	3: 64,464,081 (GRCm39)	V251A	probably benign	Het
Zfyve16	A	T	13: 92,659,311 (GRCm39)	I200N	possibly damaging	Het

Other mutations in Speer4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Speer4a3	APN	5	26,159,222 (GRCm39)	missense	probably benign
IGL01018:Speer4a3	APN	5	26,155,721 (GRCm39)	missense	probably benign
IGL02487:Speer4a3	APN	5	26,156,605 (GRCm39)	missense	probably benign	0.00
IGL02612:Speer4a3	APN	5	26,156,614 (GRCm39)	missense	probably benign	0.32
IGL02654:Speer4a3	APN	5	26,158,205 (GRCm39)	missense	probably benign	0.00
R1344:Speer4a3	UTSW	5	26,158,107 (GRCm39)	missense	probably benign	0.07
R1462:Speer4a3	UTSW	5	26,156,623 (GRCm39)	missense	possibly damaging	0.94
R1462:Speer4a3	UTSW	5	26,156,623 (GRCm39)	missense	possibly damaging	0.94
R2213:Speer4a3	UTSW	5	26,158,175 (GRCm39)	missense	probably benign
R6856:Speer4a3	UTSW	5	26,155,843 (GRCm39)	missense	probably benign
R7069:Speer4a3	UTSW	5	26,154,842 (GRCm39)	missense	possibly damaging	0.94
R7165:Speer4a3	UTSW	5	26,155,849 (GRCm39)	small deletion	probably benign
R7737:Speer4a3	UTSW	5	26,155,849 (GRCm39)	small deletion	probably benign
R8393:Speer4a3	UTSW	5	26,158,076 (GRCm39)	missense	probably damaging	1.00
R8729:Speer4a3	UTSW	5	26,158,178 (GRCm39)	missense	probably damaging	0.99
R8815:Speer4a3	UTSW	5	26,158,191 (GRCm39)	missense	probably damaging	1.00
R8901:Speer4a3	UTSW	5	26,155,857 (GRCm39)	small deletion	probably benign
R8922:Speer4a3	UTSW	5	26,156,594 (GRCm39)	missense	possibly damaging	0.89
R9125:Speer4a3	UTSW	5	26,156,596 (GRCm39)	missense	possibly damaging	0.78
R9156:Speer4a3	UTSW	5	26,155,857 (GRCm39)	small deletion	probably benign
R9451:Speer4a3	UTSW	5	26,156,569 (GRCm39)	nonsense	probably null
R9474:Speer4a3	UTSW	5	26,158,136 (GRCm39)	missense	probably damaging	1.00
R9498:Speer4a3	UTSW	5	26,155,849 (GRCm39)	small deletion	probably benign
R9717:Speer4a3	UTSW	5	26,154,829 (GRCm39)	missense	probably damaging	0.99
R9766:Speer4a3	UTSW	5	26,155,849 (GRCm39)	small deletion	probably benign
RF039:Speer4a3	UTSW	5	26,155,857 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGCCAATGGTATCAGATAGTC -3'
(R):5'- TCCTTGAAATGGCTGGTTGC -3'

Sequencing Primer
(F):5'- GCCAATGGTATCAGATAGTCATAGCC -3'
(R):5'- ACAGCTGTCATGGATGTATTGAG -3'

Posted On

2022-10-06