Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Speer4f2'

591054

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17374415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 71 (M71L)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166086]

AlphaFold

E9Q366

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: M71L

Domain	Start	End	E-Value	Type
Pfam:Takusan	34	112	9.6e-20	PFAM
low complexity region	208	253	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,826,593	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,574,494	E1161A	probably benign	Het
Adcy5	T	C	16: 35,270,947	S587P	probably damaging	Het
Aebp2	T	A	6: 140,653,748		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,594,101	V423A	probably damaging	Het
Arid1b	T	A	17: 5,291,085	M888K	possibly damaging	Het
Asl	C	A	5: 130,018,390	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,651,613	D109V	probably damaging	Het
Cat	G	A	2: 103,460,364	P402S	probably damaging	Het
Ccdc141	A	T	2: 77,042,478	Y787N	probably benign	Het
Ccdc78	T	C	17: 25,790,111	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,271,934	K145Q	probably benign	Het
Cfap65	A	T	1: 74,933,144	C19S	probably benign	Het
CN725425	T	A	15: 91,239,435	I118N	probably benign	Het
Ctc1	C	T	11: 69,026,215	P312S	probably damaging	Het
Ctsa	C	T	2: 164,838,933	T442I	probably benign	Het
Cyp2b9	A	G	7: 26,186,942	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,177,701	M1181T	probably damaging	Het
Dagla	C	G	19: 10,248,206	G865R	probably benign	Het
Dst	A	C	1: 34,228,977	K3153Q	probably damaging	Het
Dst	A	T	1: 34,228,978	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,629,511	I286M	probably benign	Het
Flvcr1	A	T	1: 191,011,605	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,929,921	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,778,161	K222E	probably benign	Het
Gdpd5	G	A	7: 99,424,189	R26H	probably damaging	Het
Gnptab	T	A	10: 88,445,819	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,698,330	E256G	probably benign	Het
Hif3a	C	T	7: 17,049,096	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,346,569	T375A	probably benign	Het
Hspa4	C	A	11: 53,300,124	V15F	probably damaging	Het
Il18	A	G	9: 50,579,401	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,374,098		probably null	Het
Knop1	A	G	7: 118,845,809	S525P	unknown	Het
Leo1	A	T	9: 75,455,679	Y461F	possibly damaging	Het
Med1	C	T	11: 98,169,363	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,010,489	H159Q	probably benign	Het
Msl1	A	G	11: 98,796,111	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 90,946,806	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,438,697	L203Q	probably benign	Het
Olfr1024	G	T	2: 85,904,319	T245N	possibly damaging	Het
Otoa	T	G	7: 121,147,700	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,145,023	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,456,804	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,515,669		probably null	Het
Pds5a	A	G	5: 65,618,981	V90A	probably damaging	Het
Pgam2	T	C	11: 5,803,351	K113R	probably null	Het
Phkb	G	T	8: 85,940,887	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,782,461	S346P	probably damaging	Het
Pkd1l3	G	A	8: 109,638,417	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,651,866	Y68C	possibly damaging	Het
Polk	T	C	13: 96,496,813	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,738,611	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,348,559	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,638,324	D386G	probably benign	Het
Rab22a	T	C	2: 173,688,175	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,909,915	D238G	probably damaging	Het
Rbp3	T	C	14: 33,955,840	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,174,501	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,104,108	E232G	probably damaging	Het
Shroom1	T	A	11: 53,466,908	V762E	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Tgfb1	A	T	7: 25,687,695		probably benign	Het
Tnik	C	T	3: 28,604,185	R540C	probably damaging	Het
Tti1	A	T	2: 158,008,554	I255N	probably benign	Het
Ttn	T	C	2: 76,897,146	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995	V57M	probably damaging	Het
Usp30	T	A	5: 114,102,445	I49N	probably damaging	Het
Usp7	G	A	16: 8,702,043	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,941,053	Y552H	probably damaging	Het
Zfp616	A	G	11: 74,083,187	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,769,458	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,243,195	V53D	probably damaging	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Speer4f2	APN	5	17376567	missense	possibly damaging	0.94
IGL02092:Speer4f2	APN	5	17376629	nonsense	probably null
IGL03100:Speer4f2	APN	5	17376530	missense	probably damaging	0.99
R0939:Speer4f2	UTSW	5	17374404	missense	probably damaging	0.99
R1384:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R1528:Speer4f2	UTSW	5	17376542	missense
R1873:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R3608:Speer4f2	UTSW	5	17374494	missense	probably benign	0.03
R4972:Speer4f2	UTSW	5	17374425	missense	probably benign	0.27
R5421:Speer4f2	UTSW	5	17374358	missense	possibly damaging	0.88
R5450:Speer4f2	UTSW	5	17373219	missense	possibly damaging	0.85
R5452:Speer4f2	UTSW	5	17376500	missense	possibly damaging	0.93
R5531:Speer4f2	UTSW	5	17376528	missense	possibly damaging	0.57
R5924:Speer4f2	UTSW	5	17376624	missense	probably damaging	1.00
R6454:Speer4f2	UTSW	5	17374433	missense	probably damaging	0.99
R6553:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6585:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6649:Speer4f2	UTSW	5	17375769	missense	probably benign	0.05
R6878:Speer4f2	UTSW	5	17375767	missense	probably damaging	0.99
R7089:Speer4f2	UTSW	5	17376663	missense
R7129:Speer4f2	UTSW	5	17377448	missense
R7448:Speer4f2	UTSW	5	17376542	missense
R7942:Speer4f2	UTSW	5	17377632	missense	unknown
R8170:Speer4f2	UTSW	5	17374461	missense
R8409:Speer4f2	UTSW	5	17377421	missense
R9154:Speer4f2	UTSW	5	17376612	missense

Predicted Primers

PCR Primer
(F):5'- AATCTCATACTGGGACCAATCTC -3'
(R):5'- TGAAATGGGGCCCAGGTATG -3'

Sequencing Primer
(F):5'- CCAATCTCTTGGTGGTGTCATTAG -3'
(R):5'- CCCAGGTATGTTCTCATGGTATAGC -3'

Posted On

2019-11-12