Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Speer4f2'

550067

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17376663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 201 (H201P)

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: H201P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009C09Rik	A	T	15: 82,252,573		probably benign	Het
1700010I14Rik	T	C	17: 9,008,095	V494A	probably benign	Het
1700011I03Rik	C	T	18: 57,591,987	T96I	probably benign	Het
1700017B05Rik	A	T	9: 57,258,758	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,666,533	I640L	possibly damaging	Het
Afdn	T	G	17: 13,890,812		probably null	Het
Ammecr1l	A	T	18: 31,761,824		probably benign	Het
Aox2	A	T	1: 58,336,649	Y879F	probably benign	Het
Arhgap45	G	A	10: 80,026,347		probably null	Het
Arpp21	G	T	9: 112,126,446	H542N	probably benign	Het
Cdt1	G	A	8: 122,571,980	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,153,693	H149Y		Het
Clpp	T	G	17: 56,990,421	W32G	probably benign	Het
Dnmt1	G	T	9: 20,908,489	L1572M	probably damaging	Het
Drd3	G	T	16: 43,807,378	R128S	probably damaging	Het
Elmo2	A	T	2: 165,304,929	F243I	possibly damaging	Het
Endou	G	A	15: 97,720,245	P128L	probably benign	Het
Fat3	A	G	9: 15,996,918	M2596T	probably benign	Het
Fbxl16	A	G	17: 25,816,729	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230	S99P	possibly damaging	Het
Fez1	A	T	9: 36,867,703	R225S	probably benign	Het
Gm14326	A	T	2: 177,946,671	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,143,246	M1360L	probably benign	Het
Hspg2	T	C	4: 137,544,366	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,523,858	K101E	probably benign	Het
Il15	A	T	8: 82,337,575	S77R	probably damaging	Het
Ints13	T	C	6: 146,574,718	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,842,946	P357S	probably benign	Het
Kcmf1	G	T	6: 72,848,306	T268K	probably benign	Het
Kmt2d	A	T	15: 98,850,272	I3057N	unknown	Het
Lgi2	A	G	5: 52,538,490	F376L	probably damaging	Het
Lrig3	T	G	10: 125,997,124	L289R	probably damaging	Het
Mafk	A	G	5: 139,800,121	S25G	probably benign	Het
Mpz	T	C	1: 171,159,635		probably null	Het
Nalcn	A	C	14: 123,278,349	I1680R	probably benign	Het
Olfr154	C	T	2: 85,664,174	V87M	possibly damaging	Het
Olfr270	C	T	4: 52,971,470	P283L	probably damaging	Het
Olfr486	A	T	7: 108,172,494	N83K	probably benign	Het
Olfr994	T	A	2: 85,430,558	K90N	probably benign	Het
Otof	A	C	5: 30,371,568	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,022,202	Y198H	probably damaging	Het
P3h2	T	A	16: 25,965,809	N645I	probably damaging	Het
Pbld2	A	G	10: 63,053,912	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,073,243	R608C	probably damaging	Het
Pdia5	T	C	16: 35,407,679	T408A	probably benign	Het
Pik3cg	A	G	12: 32,176,846	V1014A	probably benign	Het
Prpf8	A	G	11: 75,508,548	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,724,172	Y245*	probably null	Het
Rerg	T	C	6: 137,067,035	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,599,468	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,403,873	V78I	probably damaging	Het
Ryr2	A	C	13: 11,649,776	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,337,807	Q324K	probably benign	Het
Serpinb6e	G	A	13: 33,832,715	T345I	probably damaging	Het
Smchd1	T	C	17: 71,361,960	T1687A	probably benign	Het
Spef2	G	A	15: 9,725,171	R167C	probably damaging	Het
Srp68	A	G	11: 116,271,907		probably null	Het
Tbc1d14	A	T	5: 36,512,540	F455I	probably benign	Het
Tet3	A	G	6: 83,455,024	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,397,773	S696T	probably benign	Het
Tmem63b	T	C	17: 45,667,783	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,489,291	I328M	probably damaging	Het
Tpm3	C	T	3: 90,072,722		probably benign	Het
Trim28	T	A	7: 13,024,906	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,777,486	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,286,942	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,418,643	T770A		Het
Zcchc2	C	A	1: 106,030,481	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,065,772	V1585A	probably benign	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
R7129:Speer4f2	UTSW	5	17377448	missense
R7448:Speer4f2	UTSW	5	17376542	missense
R7654:Speer4f2	UTSW	5	17374415	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'- CCATGCAGAGTGTCCTTACAG -3'
(R):5'- GTGGCTCAAAAGAGGCTAATTCAG -3'

Sequencing Primer
(F):5'- GCAGAGTGTCCTTACAGTAACCTG -3'
(R):5'- GGCTAATTCAGTTTCTCACAAGAGGC -3'

Posted On

2019-05-15