Mutagenetix > Incidental Mutation

Incidental Mutation 'R2332:Speer4f1'

246463

Institutional Source

Beutler Lab

Gene Symbol

Speer4f1

Ensembl Gene

ENSMUSG00000058643

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4F1

Synonyms

4922502J04Rik, Speer4f, SPEER-4F

MMRRC Submission

040322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17681120-17685934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17684522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 183 (N183K)

Ref Sequence

ENSEMBL: ENSMUSP00000075467 (fasta)

Gene Model

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

AlphaFold

Q9D5Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076099
AA Change: N183K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075467
Gene: ENSMUSG00000058643
AA Change: N183K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,450,112 (GRCm39)	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,153,653 (GRCm39)	V85I	probably benign	Het
Banf1	C	T	19: 5,415,058 (GRCm39)	W84*	probably null	Het
Cdk13	A	G	13: 17,893,280 (GRCm39)	L627P	probably damaging	Het
Cep250	A	G	2: 155,832,527 (GRCm39)	E1483G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,490,125 (GRCm39)	E1698G	probably benign	Het
Depdc1a	C	A	3: 159,229,503 (GRCm39)	Q612K	probably damaging	Het
Dnaja2	G	A	8: 86,266,765 (GRCm39)	R321C	probably damaging	Het
Fam186b	T	A	15: 99,178,309 (GRCm39)	E339V	probably benign	Het
Fga	T	C	3: 82,938,704 (GRCm39)	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823 (GRCm39)	W330*	probably null	Het
Ghr	T	C	15: 3,349,891 (GRCm39)	N429S	probably benign	Het
Gm5444	A	T	13: 4,883,624 (GRCm39)		noncoding transcript	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hoxa5	T	C	6: 52,179,659 (GRCm39)	I239V	probably damaging	Het
Hps6	T	C	19: 45,992,930 (GRCm39)	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,663,801 (GRCm39)	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,717,427 (GRCm39)		probably null	Het
Or10ag53	T	C	2: 87,083,217 (GRCm39)	V312A	possibly damaging	Het
Or52d13	A	G	7: 103,110,293 (GRCm39)	Y41H	probably damaging	Het
Pacsin1	A	G	17: 27,923,885 (GRCm39)	E93G	possibly damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,887,435 (GRCm39)	E482D	probably damaging	Het
Rhobtb3	A	G	13: 76,058,971 (GRCm39)	S276P	probably benign	Het
Rimbp2	A	G	5: 128,866,705 (GRCm39)	V538A	probably benign	Het
Rmdn3	A	T	2: 118,984,008 (GRCm39)		probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Slc4a11	A	T	2: 130,526,379 (GRCm39)	V855D	probably benign	Het
Sstr4	A	T	2: 148,238,330 (GRCm39)	N314Y	probably damaging	Het
Synj2	A	G	17: 6,074,069 (GRCm39)	K288E	probably damaging	Het
Trhde	T	A	10: 114,428,070 (GRCm39)	N409Y	probably damaging	Het
Ttn	A	T	2: 76,611,483 (GRCm39)	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,584,827 (GRCm39)	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,875,256 (GRCm39)	D1750E	probably benign	Het
Wdfy3	A	G	5: 102,036,189 (GRCm39)		probably benign	Het
Wnt4	C	A	4: 137,023,831 (GRCm39)	T266K	probably benign	Het
Wtap	C	T	17: 13,186,425 (GRCm39)	R374Q	possibly damaging	Het
Zfp322a	A	T	13: 23,541,494 (GRCm39)	C83S	probably damaging	Het

Other mutations in Speer4f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03344:Speer4f1	APN	5	17,685,332 (GRCm39)	missense	possibly damaging	0.88
IGL02837:Speer4f1	UTSW	5	17,685,381 (GRCm39)	missense	unknown
PIT4508001:Speer4f1	UTSW	5	17,685,412 (GRCm39)	missense	unknown
PIT4514001:Speer4f1	UTSW	5	17,683,754 (GRCm39)	missense	possibly damaging	0.94
R0165:Speer4f1	UTSW	5	17,684,512 (GRCm39)	nonsense	probably null
R1557:Speer4f1	UTSW	5	17,684,490 (GRCm39)	missense	probably damaging	1.00
R1740:Speer4f1	UTSW	5	17,683,759 (GRCm39)	missense	probably damaging	1.00
R3890:Speer4f1	UTSW	5	17,684,500 (GRCm39)	missense	probably damaging	0.98
R4659:Speer4f1	UTSW	5	17,681,221 (GRCm39)	missense	possibly damaging	0.75
R4718:Speer4f1	UTSW	5	17,685,422 (GRCm39)	missense	unknown
R5322:Speer4f1	UTSW	5	17,682,347 (GRCm39)	missense	possibly damaging	0.47
R6075:Speer4f1	UTSW	5	17,684,482 (GRCm39)	missense	possibly damaging	0.95
R6134:Speer4f1	UTSW	5	17,681,140 (GRCm39)	missense	probably benign	0.10
R6192:Speer4f1	UTSW	5	17,684,493 (GRCm39)	missense	probably damaging	1.00
R6277:Speer4f1	UTSW	5	17,681,241 (GRCm39)	missense	probably damaging	0.99
R6803:Speer4f1	UTSW	5	17,684,388 (GRCm39)	splice site	probably null
R7820:Speer4f1	UTSW	5	17,684,528 (GRCm39)	missense	probably damaging	1.00
Z1088:Speer4f1	UTSW	5	17,684,477 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGGGTACAGGTCAGGTTAATG -3'
(R):5'- CCAGAATGCTTGTGTGAAGACAG -3'

Sequencing Primer
(F):5'- AGGTTAATGGGACCTGTAAGTAG -3'
(R):5'- TGAACAGCTACATTCCATGAGG -3'

Posted On

2014-10-30