Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03100:Speer4f2'

418680

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: 0.132) question?

Stock #

IGL03100

Quality Score

Status

Chromosome

Chromosomal Location

17578184-17582990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17581528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 157 (K157E)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165985

Predicted Effect

probably damaging
Transcript: ENSMUST00000166086
AA Change: K157E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: K157E

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,208,527 (GRCm39)	R233S	probably benign	Het
Abcc9	A	T	6: 142,640,270 (GRCm39)	W73R	probably damaging	Het
Ago1	A	G	4: 126,336,964 (GRCm39)	V247A	probably benign	Het
Anpep	T	A	7: 79,486,109 (GRCm39)	T538S	probably benign	Het
Asb14	A	G	14: 26,625,329 (GRCm39)	K228R	probably benign	Het
Atp6v0d2	C	T	4: 19,910,586 (GRCm39)		probably null	Het
B3gat2	A	T	1: 23,802,272 (GRCm39)	D186V	probably damaging	Het
Bmpr1a	A	T	14: 34,163,164 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,732,175 (GRCm39)	D224G	probably damaging	Het
Cd6	T	C	19: 10,770,303 (GRCm39)	M463V	probably benign	Het
Clasp1	T	C	1: 118,395,626 (GRCm39)	I188T	possibly damaging	Het
Cldn17	G	T	16: 88,303,489 (GRCm39)	A80E	probably damaging	Het
Clptm1l	A	G	13: 73,760,509 (GRCm39)		probably benign	Het
Col6a5	A	T	9: 105,814,512 (GRCm39)	V500E	unknown	Het
Ctdspl2	C	T	2: 121,809,394 (GRCm39)	T115I	probably benign	Het
Dbh	G	T	2: 27,055,534 (GRCm39)	A3S	probably benign	Het
Fgd4	A	G	16: 16,295,383 (GRCm39)		probably benign	Het
Gm4952	T	A	19: 12,602,083 (GRCm39)		probably null	Het
Grik4	A	G	9: 42,461,751 (GRCm39)	M551T	probably damaging	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Hkdc1	T	C	10: 62,253,608 (GRCm39)	T58A	probably benign	Het
Kcnh2	T	C	5: 24,527,682 (GRCm39)	K890R	probably damaging	Het
Kif24	T	C	4: 41,394,446 (GRCm39)	H809R	possibly damaging	Het
Knl1	A	G	2: 118,931,251 (GRCm39)	E1989G	probably damaging	Het
Muc15	A	G	2: 110,561,939 (GRCm39)	D125G	probably damaging	Het
Ogdhl	A	T	14: 32,064,029 (GRCm39)	M632L	probably benign	Het
Prkdc	T	C	16: 15,531,499 (GRCm39)	I1374T	probably benign	Het
Psmd1	T	A	1: 86,046,243 (GRCm39)	N670K	possibly damaging	Het
Ryr1	T	C	7: 28,804,018 (GRCm39)	H590R	probably damaging	Het
Scara3	A	C	14: 66,168,722 (GRCm39)	H298Q	probably damaging	Het
Sirt3	T	C	7: 140,445,030 (GRCm39)	D256G	probably damaging	Het
Slc13a2	T	C	11: 78,295,299 (GRCm39)	Q158R	probably damaging	Het
Slco5a1	T	A	1: 12,949,504 (GRCm39)	T629S	possibly damaging	Het
Srsf1	T	A	11: 87,939,954 (GRCm39)	D155E	probably damaging	Het
Tln2	C	T	9: 67,203,019 (GRCm39)	R534H	probably damaging	Het
Ttn	A	G	2: 76,591,992 (GRCm39)		probably benign	Het
Ube2m	A	G	7: 12,771,562 (GRCm39)	L32P	probably benign	Het
Wdr24	T	A	17: 26,044,681 (GRCm39)	F179I	possibly damaging	Het
Zfp961	T	C	8: 72,721,754 (GRCm39)	*69Q	probably null	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Speer4f2	APN	5	17,581,565 (GRCm39)	missense	possibly damaging	0.94
IGL02092:Speer4f2	APN	5	17,581,627 (GRCm39)	nonsense	probably null
R0939:Speer4f2	UTSW	5	17,579,402 (GRCm39)	missense	probably damaging	0.99
R1384:Speer4f2	UTSW	5	17,579,447 (GRCm39)	missense	probably damaging	1.00
R1528:Speer4f2	UTSW	5	17,581,540 (GRCm39)	missense
R1873:Speer4f2	UTSW	5	17,579,447 (GRCm39)	missense	probably damaging	1.00
R3608:Speer4f2	UTSW	5	17,579,492 (GRCm39)	missense	probably benign	0.03
R4972:Speer4f2	UTSW	5	17,579,423 (GRCm39)	missense	probably benign	0.27
R5421:Speer4f2	UTSW	5	17,579,356 (GRCm39)	missense	possibly damaging	0.88
R5450:Speer4f2	UTSW	5	17,578,217 (GRCm39)	missense	possibly damaging	0.85
R5452:Speer4f2	UTSW	5	17,581,498 (GRCm39)	missense	possibly damaging	0.93
R5531:Speer4f2	UTSW	5	17,581,526 (GRCm39)	missense	possibly damaging	0.57
R5924:Speer4f2	UTSW	5	17,581,622 (GRCm39)	missense	probably damaging	1.00
R6454:Speer4f2	UTSW	5	17,579,431 (GRCm39)	missense	probably damaging	0.99
R6553:Speer4f2	UTSW	5	17,579,420 (GRCm39)	missense	probably damaging	1.00
R6585:Speer4f2	UTSW	5	17,579,420 (GRCm39)	missense	probably damaging	1.00
R6649:Speer4f2	UTSW	5	17,580,767 (GRCm39)	missense	probably benign	0.05
R6878:Speer4f2	UTSW	5	17,580,765 (GRCm39)	missense	probably damaging	0.99
R7089:Speer4f2	UTSW	5	17,581,661 (GRCm39)	missense
R7129:Speer4f2	UTSW	5	17,582,446 (GRCm39)	missense
R7448:Speer4f2	UTSW	5	17,581,540 (GRCm39)	missense
R7654:Speer4f2	UTSW	5	17,579,413 (GRCm39)	missense
R7942:Speer4f2	UTSW	5	17,582,630 (GRCm39)	missense	unknown
R8170:Speer4f2	UTSW	5	17,579,459 (GRCm39)	missense
R8409:Speer4f2	UTSW	5	17,582,419 (GRCm39)	missense
R9154:Speer4f2	UTSW	5	17,581,610 (GRCm39)	missense

Posted On

2016-08-02