Mutagenetix > Incidental Mutation

Incidental Mutation 'R3805:Speer4a1'

274544

Institutional Source

Beutler Lab

Gene Symbol

Speer4a1

Ensembl Gene

ENSMUSG00000073119

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4A1

Synonyms

Speer4a, 1700027N01Rik, SPEER-4A

MMRRC Submission

040762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3805 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

26239268-26244503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26240082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 223 (E223K)

Ref Sequence

ENSEMBL: ENSMUSP00000078415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079447]

AlphaFold

F8VPX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079447
AA Change: E223K

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078415
Gene: ENSMUSG00000073119
AA Change: E223K

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.7e-26	PFAM
low complexity region	135	146	N/A	INTRINSIC
low complexity region	154	168	N/A	INTRINSIC
coiled coil region	183	223	N/A	INTRINSIC
low complexity region	248	261	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aebp2	GCGGCC	GCGGCCGGCC	6: 140,589,675 (GRCm39)		probably null	Het
Ano5	T	C	7: 51,226,398 (GRCm39)	F584L	probably benign	Het
Ap1b1	T	A	11: 4,983,225 (GRCm39)		probably null	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc138	T	C	10: 58,397,819 (GRCm39)	I553T	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Dnah1	A	T	14: 31,016,720 (GRCm39)	M1599K	possibly damaging	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Fam169a	G	A	13: 97,234,192 (GRCm39)	V155I	probably benign	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Hdac3	A	G	18: 38,078,745 (GRCm39)		probably null	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Htt	A	G	5: 35,034,548 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,556 (GRCm39)	I231V	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Map7d1	A	T	4: 126,131,084 (GRCm39)		probably null	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Naaladl1	A	G	19: 6,164,895 (GRCm39)	T628A	probably benign	Het
Nlrp9a	T	A	7: 26,264,277 (GRCm39)	C643*	probably null	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or4b1	T	G	2: 89,978,805 (GRCm39)		probably benign	Het
Oxtr	T	C	6: 112,454,147 (GRCm39)	K39R	probably benign	Het
Ppp4r4	T	A	12: 103,566,625 (GRCm39)	M24K	probably damaging	Het
Ppp6r2	T	C	15: 89,149,842 (GRCm39)	F256L	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Rsph10b	G	A	5: 143,895,206 (GRCm39)		probably null	Het
Slc9b2	T	C	3: 135,030,349 (GRCm39)	L222P	probably damaging	Het
St18	T	A	1: 6,872,577 (GRCm39)	L104H	probably damaging	Het
Tmem184c	C	A	8: 78,323,504 (GRCm39)	D453Y	unknown	Het
Trpv1	A	T	11: 73,143,879 (GRCm39)	N237I	probably damaging	Het
Vmn2r77	T	A	7: 86,444,368 (GRCm39)	L7*	probably null	Het

Other mutations in Speer4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Speer4a1	APN	5	26,240,045 (GRCm39)	missense	possibly damaging	0.95
IGL01959:Speer4a1	APN	5	26,240,902 (GRCm39)	nonsense	probably null
IGL02294:Speer4a1	APN	5	26,243,240 (GRCm39)	missense	probably benign	0.21
FR4340:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
FR4342:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
FR4589:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
R0137:Speer4a1	UTSW	5	26,240,982 (GRCm39)	missense	possibly damaging	0.95
R1068:Speer4a1	UTSW	5	26,241,024 (GRCm39)	missense	probably null	0.84
R1209:Speer4a1	UTSW	5	26,240,123 (GRCm39)	critical splice acceptor site	probably null
R4525:Speer4a1	UTSW	5	26,244,341 (GRCm39)	critical splice donor site	probably null
R4851:Speer4a1	UTSW	5	26,243,210 (GRCm39)	missense	probably damaging	0.99
R5326:Speer4a1	UTSW	5	26,241,736 (GRCm39)	missense	probably damaging	0.99
R5542:Speer4a1	UTSW	5	26,241,736 (GRCm39)	missense	probably damaging	0.99
R6081:Speer4a1	UTSW	5	26,239,960 (GRCm39)	nonsense	probably null
R6742:Speer4a1	UTSW	5	26,241,054 (GRCm39)	splice site	probably null
R7521:Speer4a1	UTSW	5	26,241,763 (GRCm39)	missense	probably damaging	1.00
R8669:Speer4a1	UTSW	5	26,243,236 (GRCm39)	missense	probably damaging	1.00
R8782:Speer4a1	UTSW	5	26,241,754 (GRCm39)	missense	probably benign	0.39
R8830:Speer4a1	UTSW	5	26,241,793 (GRCm39)	missense	possibly damaging	0.77
Z1177:Speer4a1	UTSW	5	26,240,036 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCCCTGAATCAGCCATGG -3'
(R):5'- TTTTCAGCCCAGGTTTTGTGAC -3'

Sequencing Primer
(F):5'- GCCATGGCTTCCTCGGTAG -3'
(R):5'- GTCTGCAGATTTCACAGCAG -3'

Posted On

2015-04-02