Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Speer4f2'

89024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

Accession Numbers

Essential gene?

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

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17376567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 169 (V169E)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165985

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166086
AA Change: V169E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: V169E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347 (GRCm38)		probably null	Het
A2m	A	G	6: 121,676,947 (GRCm38)	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542 (GRCm38)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115 (GRCm38)	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830 (GRCm38)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063 (GRCm38)	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432 (GRCm38)	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049 (GRCm38)	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894 (GRCm38)		probably null	Het
Clcn5	A	T	X: 7,170,439 (GRCm38)	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703 (GRCm38)	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718 (GRCm38)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087 (GRCm38)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223 (GRCm38)	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124 (GRCm38)	N129S	unknown	Het
Cp	C	T	3: 19,977,192 (GRCm38)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246 (GRCm38)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680 (GRCm38)		probably null	Het
Dnajb7	T	C	15: 81,407,491 (GRCm38)	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510 (GRCm38)	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116 (GRCm38)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,366,997 (GRCm38)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Fzd7	A	G	1: 59,483,903 (GRCm38)	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726 (GRCm38)	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618 (GRCm38)	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128 (GRCm38)		probably benign	Het
Gpr160	T	C	3: 30,895,853 (GRCm38)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749 (GRCm38)	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454 (GRCm38)	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194 (GRCm38)	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311 (GRCm38)	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145 (GRCm38)		probably benign	Het
Il18rap	A	G	1: 40,537,084 (GRCm38)	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717 (GRCm38)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851 (GRCm38)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401 (GRCm38)	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743 (GRCm38)	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933 (GRCm38)	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689 (GRCm38)	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734 (GRCm38)	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187 (GRCm38)	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871 (GRCm38)	C240*	probably null	Het
Pard3	T	A	8: 127,324,063 (GRCm38)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207 (GRCm38)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358 (GRCm38)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911 (GRCm38)	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971 (GRCm38)	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282 (GRCm38)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776 (GRCm38)	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964 (GRCm38)	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893 (GRCm38)		probably benign	Het
Smg6	A	G	11: 75,156,291 (GRCm38)	Y1270C	probably damaging	Het
Stpg2	C	T	3: 139,317,453 (GRCm38)	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963 (GRCm38)	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060 (GRCm38)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572 (GRCm38)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059 (GRCm38)	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498 (GRCm38)	I676N	probably damaging	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1873:Speer4f2	UTSW	5	17,374,449 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2013-12-03