Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Speer4f2'

210923

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17374449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 82 (N82I)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

probably damaging
Transcript: ENSMUST00000166086
AA Change: N82I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: N82I

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: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,979,955 (GRCm38)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,574,499 (GRCm38)	Y190C	probably damaging	Het
Adam34	A	C	8: 43,651,806 (GRCm38)	N267K	probably benign	Het
Anxa5	T	C	3: 36,449,402 (GRCm38)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,559,888 (GRCm38)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,513,872 (GRCm38)	M400R	probably damaging	Het
Cd96	C	A	16: 46,117,972 (GRCm38)	L43F	probably damaging	Het
Cep120	T	C	18: 53,738,488 (GRCm38)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,953,659 (GRCm38)	I358V	probably benign	Het
Chil4	C	T	3: 106,206,098 (GRCm38)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,746,829 (GRCm38)	V631A	probably damaging	Het
Cluh	C	T	11: 74,662,076 (GRCm38)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,897,157 (GRCm38)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,401,384 (GRCm38)	N255S	probably benign	Het
Cyth3	T	A	5: 143,697,761 (GRCm38)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,456,532 (GRCm38)		probably benign	Het
Fbxl18	G	A	5: 142,886,223 (GRCm38)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,823,238 (GRCm38)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm38)	H152N	probably benign	Het
Gm10477	T	A	X: 56,524,767 (GRCm38)	F9Y	probably damaging	Het
Gm4788	C	T	1: 139,774,660 (GRCm38)	E29K	probably damaging	Het
Gnrhr	A	G	5: 86,182,201 (GRCm38)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,930,240 (GRCm38)	S138T	probably benign	Het
Hars	C	A	18: 36,767,241 (GRCm38)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,636,363 (GRCm38)	K34E	probably damaging	Het
Hscb	T	C	5: 110,830,957 (GRCm38)	I198V	probably benign	Het
Kat6b	T	C	14: 21,516,989 (GRCm38)	S39P	probably damaging	Het
Kcnk12	G	T	17: 87,746,071 (GRCm38)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 66,002,255 (GRCm38)	I548T	probably benign	Het
Mark2	A	G	19: 7,284,515 (GRCm38)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,614,495 (GRCm38)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,859,460 (GRCm38)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,601,859 (GRCm38)	S85P	probably damaging	Het
Mum1	T	A	10: 80,232,608 (GRCm38)	D195E	possibly damaging	Het
Myh4	T	A	11: 67,254,743 (GRCm38)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,272,789 (GRCm38)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,040,661 (GRCm38)		probably null	Het
Nalcn	G	A	14: 123,283,601 (GRCm38)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,825,910 (GRCm38)	N213S	probably benign	Het
Nf1	C	A	11: 79,547,161 (GRCm38)	T99K	probably damaging	Het
Nsf	T	C	11: 103,859,017 (GRCm38)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,462,839 (GRCm38)	I190F	probably benign	Het
Obsl1	T	C	1: 75,498,233 (GRCm38)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,340,438 (GRCm38)		probably benign	Het
Olfr1448	C	T	19: 12,919,488 (GRCm38)	V274M	probably damaging	Het
Olfr693	T	A	7: 106,678,484 (GRCm38)	M1L	probably damaging	Het
Otog	G	A	7: 46,269,343 (GRCm38)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,373,998 (GRCm38)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,763,389 (GRCm38)	V189L	probably benign	Het
Polg	A	G	7: 79,456,493 (GRCm38)	L678S	probably benign	Het
Ptprm	C	T	17: 66,688,355 (GRCm38)	V1293I	probably damaging	Het
Rhou	A	T	8: 123,661,251 (GRCm38)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,736,437 (GRCm38)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,473,410 (GRCm38)		probably benign	Het
Sost	T	C	11: 101,964,243 (GRCm38)	E80G	probably damaging	Het
Spag16	C	T	1: 69,896,585 (GRCm38)		probably benign	Het
Spef2	C	T	15: 9,584,108 (GRCm38)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,556,669 (GRCm38)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 126,447,047 (GRCm38)	I976T	probably damaging	Het
Tex14	T	A	11: 87,499,605 (GRCm38)	V376D	probably damaging	Het
Timm21	G	C	18: 84,949,262 (GRCm38)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,636,223 (GRCm38)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,248,756 (GRCm38)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,747,984 (GRCm38)	E562*	probably null	Het
Umodl1	A	T	17: 30,982,264 (GRCm38)	D389V	probably damaging	Het
Uso1	T	C	5: 92,192,859 (GRCm38)		probably benign	Het
Vmn1r205	A	G	13: 22,592,053 (GRCm38)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,345,578 (GRCm38)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,391,058 (GRCm38)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,362,153 (GRCm38)	I7F	probably benign	Het
Vps11	A	G	9: 44,359,936 (GRCm38)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,633,652 (GRCm38)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,451,127 (GRCm38)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,332,757 (GRCm38)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,866,482 (GRCm38)		probably null	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Speer4f2	APN	5	17,376,567 (GRCm38)	missense	possibly damaging	0.94
IGL02092:Speer4f2	APN	5	17,376,629 (GRCm38)	nonsense	probably null
IGL03100:Speer4f2	APN	5	17,376,530 (GRCm38)	missense	probably damaging	0.99
R0939:Speer4f2	UTSW	5	17,374,404 (GRCm38)	missense	probably damaging	0.99
R1384:Speer4f2	UTSW	5	17,374,449 (GRCm38)	missense	probably damaging	1.00
R1528:Speer4f2	UTSW	5	17,376,542 (GRCm38)	missense
R3608:Speer4f2	UTSW	5	17,374,494 (GRCm38)	missense	probably benign	0.03
R4972:Speer4f2	UTSW	5	17,374,425 (GRCm38)	missense	probably benign	0.27
R5421:Speer4f2	UTSW	5	17,374,358 (GRCm38)	missense	possibly damaging	0.88
R5450:Speer4f2	UTSW	5	17,373,219 (GRCm38)	missense	possibly damaging	0.85
R5452:Speer4f2	UTSW	5	17,376,500 (GRCm38)	missense	possibly damaging	0.93
R5531:Speer4f2	UTSW	5	17,376,528 (GRCm38)	missense	possibly damaging	0.57
R5924:Speer4f2	UTSW	5	17,376,624 (GRCm38)	missense	probably damaging	1.00
R6454:Speer4f2	UTSW	5	17,374,433 (GRCm38)	missense	probably damaging	0.99
R6553:Speer4f2	UTSW	5	17,374,422 (GRCm38)	missense	probably damaging	1.00
R6585:Speer4f2	UTSW	5	17,374,422 (GRCm38)	missense	probably damaging	1.00
R6649:Speer4f2	UTSW	5	17,375,769 (GRCm38)	missense	probably benign	0.05
R6878:Speer4f2	UTSW	5	17,375,767 (GRCm38)	missense	probably damaging	0.99
R7089:Speer4f2	UTSW	5	17,376,663 (GRCm38)	missense
R7129:Speer4f2	UTSW	5	17,377,448 (GRCm38)	missense
R7448:Speer4f2	UTSW	5	17,376,542 (GRCm38)	missense
R7654:Speer4f2	UTSW	5	17,374,415 (GRCm38)	missense
R7942:Speer4f2	UTSW	5	17,377,632 (GRCm38)	missense	unknown
R8170:Speer4f2	UTSW	5	17,374,461 (GRCm38)	missense
R8409:Speer4f2	UTSW	5	17,377,421 (GRCm38)	missense
R9154:Speer4f2	UTSW	5	17,376,612 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- TCTCATACTGGGACCAATCTCTTG -3'
(R):5'- CATGAAATGGGGCCCAGGTATG -3'

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

Posted On

2014-06-30