Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4508001:Speer4f1'

556221

Institutional Source

Beutler Lab

Gene Symbol

Speer4f1

Ensembl Gene

ENSMUSG00000058643

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4F1

Synonyms

4922502J04Rik, Speer4f, SPEER-4F

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

PIT4508001 (G1)

Quality Score

118.008

Status

Not validated

Chromosome

Chromosomal Location

17476098-17480936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17480414 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

Ref Sequence

ENSEMBL: ENSMUSP00000075467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076099]

Predicted Effect

unknown
Transcript: ENSMUST00000076099
AA Change: S236P

SMART Domains

Protein: ENSMUSP00000075467
Gene: ENSMUSG00000058643
AA Change: S236P

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	128	1.2e-19	PFAM
low complexity region	224	258	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,357,378	T1228A	probably damaging	Het
Actg2	A	T	6: 83,513,007	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,607,137	T330A	possibly damaging	Het
Atrip	C	T	9: 109,073,989	A6T	possibly damaging	Het
Bms1	G	A	6: 118,383,806	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,984,419	T487S	probably benign	Het
Col4a3bp	T	C	13: 96,630,776	F478S	probably damaging	Het
Esco2	A	T	14: 65,831,465	V132E	probably damaging	Het
Gjb5	A	T	4: 127,356,240	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,502,277	Y24F		Het
H2-Q6	T	C	17: 35,425,820	L195P	probably damaging	Het
Hc	T	C	2: 34,984,804	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hist1h2bg	CTCGACCATCACGTC	CTC	13: 23,571,693		probably benign	Het
Itga3	T	C	11: 95,055,893	H730R	probably benign	Het
Kif1a	A	T	1: 93,046,729	L866Q	probably damaging	Het
Krt81	A	T	15: 101,462,725	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,325,894	D170E	probably benign	Het
Myh2	A	G	11: 67,185,505	M811V	probably benign	Het
Naa16	A	T	14: 79,369,087	D335E	probably benign	Het
Nkd1	A	G	8: 88,522,400	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,370,270	R292*	probably null	Het
Olfr1136	G	A	2: 87,693,715	H56Y	probably damaging	Het
Olfr589	T	A	7: 103,155,313	M145L	probably benign	Het
Pom121l12	A	G	11: 14,599,689	R132G	possibly damaging	Het
Prss46	A	G	9: 110,851,416	K210E	probably damaging	Het
Scn8a	T	C	15: 101,029,692	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,267,480	V318I	probably benign	Het
Slc41a2	T	G	10: 83,254,880	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,638,435	A331S	probably benign	Het
Smg1	A	T	7: 118,185,541	F885I	unknown	Het
Zfp326	A	T	5: 105,914,690	Q475L	probably benign	Het
Zzef1	T	G	11: 72,895,176	V2058G	probably benign	Het

Other mutations in Speer4f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03344:Speer4f1	APN	5	17480334	missense	possibly damaging	0.88
IGL02837:Speer4f1	UTSW	5	17480383	missense	unknown
PIT4514001:Speer4f1	UTSW	5	17478756	missense	possibly damaging	0.94
R0165:Speer4f1	UTSW	5	17479514	nonsense	probably null
R1557:Speer4f1	UTSW	5	17479492	missense	probably damaging	1.00
R1740:Speer4f1	UTSW	5	17478761	missense	probably damaging	1.00
R2332:Speer4f1	UTSW	5	17479524	missense	probably damaging	0.99
R3890:Speer4f1	UTSW	5	17479502	missense	probably damaging	0.98
R4659:Speer4f1	UTSW	5	17476223	missense	possibly damaging	0.75
R4718:Speer4f1	UTSW	5	17480424	missense	unknown
R5322:Speer4f1	UTSW	5	17477349	missense	possibly damaging	0.47
R6075:Speer4f1	UTSW	5	17479484	missense	possibly damaging	0.95
R6134:Speer4f1	UTSW	5	17476142	missense	probably benign	0.10
R6192:Speer4f1	UTSW	5	17479495	missense	probably damaging	1.00
R6277:Speer4f1	UTSW	5	17476243	missense	probably damaging	0.99
R6803:Speer4f1	UTSW	5	17479390	splice site	probably null
R7820:Speer4f1	UTSW	5	17479530	missense	probably damaging	1.00
Z1088:Speer4f1	UTSW	5	17479479	missense	probably damaging	0.99

Predicted Primers

Posted On

2019-06-07