Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Speer4f2'

695216

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17376612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 184 (L184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: L184Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,949,945 (GRCm38)	V862A	probably benign	Het
A2m	A	T	6: 121,668,553 (GRCm38)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,101,015 (GRCm38)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 24,948,753 (GRCm38)		probably benign	Het
Adnp	C	A	2: 168,184,660 (GRCm38)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,171,155 (GRCm38)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,115,371 (GRCm38)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 133,132,163 (GRCm38)	S669T	unknown	Het
Atp8b2	A	T	3: 89,958,620 (GRCm38)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm38)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,235,910 (GRCm38)	H129Q	probably benign	Het
Chrna4	G	A	2: 181,028,809 (GRCm38)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,217,446 (GRCm38)	I1105F	probably damaging	Het
Crybg2	G	A	4: 134,065,309 (GRCm38)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,891,003 (GRCm38)	L1434Q		Het
Cyp3a13	T	C	5: 137,921,496 (GRCm38)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,593,571 (GRCm38)	Y42*	probably null	Het
F11r	A	G	1: 171,461,808 (GRCm38)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,587,042 (GRCm38)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,008,281 (GRCm38)	R413C	probably damaging	Het
Fus	G	A	7: 127,981,268 (GRCm38)	G450E	unknown	Het
Gm11569	C	A	11: 99,798,441 (GRCm38)	C144F	unknown	Het
Gm7298	A	T	6: 121,779,477 (GRCm38)	Y1027F	probably damaging	Het
Grik5	C	A	7: 25,058,978 (GRCm38)	W340L	probably damaging	Het
H1f2	A	G	13: 23,739,390 (GRCm38)	K181R	unknown	Het
Hectd4	G	A	5: 121,253,904 (GRCm38)	R77H		Het
Ift81	C	A	5: 122,551,059 (GRCm38)	V665L	probably benign	Het
Ints2	A	G	11: 86,234,698 (GRCm38)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,455,124 (GRCm38)	V176I	probably benign	Het
Keap1	A	T	9: 21,230,825 (GRCm38)	Y584*	probably null	Het
Klra1	T	C	6: 130,380,644 (GRCm38)	T7A		Het
Lmo7	T	A	14: 101,885,307 (GRCm38)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,541,892 (GRCm38)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,299,967 (GRCm38)	S174T	unknown	Het
Madd	T	C	2: 91,167,817 (GRCm38)	T653A	probably damaging	Het
Mlph	G	T	1: 90,927,994 (GRCm38)	G41V	probably damaging	Het
Mov10l1	A	G	15: 89,011,915 (GRCm38)	E654G	possibly damaging	Het
Mpp3	T	C	11: 102,020,502 (GRCm38)	I165V		Het
Mrgpra2a	T	G	7: 47,426,646 (GRCm38)	Y288S	probably damaging	Het
Mroh9	T	A	1: 163,062,461 (GRCm38)	M236L		Het
Muc5b	A	C	7: 141,864,237 (GRCm38)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,362,492 (GRCm38)	I1485V	probably benign	Het
Nf2	A	T	11: 4,794,873 (GRCm38)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm38)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,213,440 (GRCm38)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,940,417 (GRCm38)	*212C	probably null	Het
Oaf	T	C	9: 43,222,695 (GRCm38)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,709,334 (GRCm38)	V25A	probably benign	Het
Or6c3	T	C	10: 129,472,821 (GRCm38)	I43T	probably benign	Het
Or7g30	T	A	9: 19,441,235 (GRCm38)	F107L	probably benign	Het
Or7h8	A	G	9: 20,212,877 (GRCm38)	H176R	possibly damaging	Het
Or8b36	T	A	9: 38,026,394 (GRCm38)	L196*	probably null	Het
Parp9	T	C	16: 35,948,173 (GRCm38)	I241T	probably damaging	Het
Phlpp2	G	T	8: 109,939,958 (GRCm38)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm38)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,088,564 (GRCm38)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,721,504 (GRCm38)	S446G	probably benign	Het
Rnf103	T	A	6: 71,510,115 (GRCm38)	C577S	probably benign	Het
Ros1	T	G	10: 52,046,205 (GRCm38)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,117,627 (GRCm38)	S50G	probably benign	Het
Rrad	C	T	8: 104,628,711 (GRCm38)	V222M	possibly damaging	Het
Ryr1	T	C	7: 29,069,858 (GRCm38)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,775,703 (GRCm38)	P18L	probably damaging	Het
Septin2	T	A	1: 93,501,588 (GRCm38)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,280,877 (GRCm38)	M117T	probably benign	Het
Slc44a5	A	G	3: 154,247,736 (GRCm38)	T252A	probably benign	Het
Sphkap	C	G	1: 83,257,261 (GRCm38)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 14,073,056 (GRCm38)	V234I	probably benign	Het
Tanc1	T	C	2: 59,799,788 (GRCm38)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,435,240 (GRCm38)	S236P	probably benign	Het
Tnik	A	G	3: 28,650,086 (GRCm38)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm38)	Q64R	unknown	Het
Ttll13	A	G	7: 80,247,434 (GRCm38)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,844,363 (GRCm38)	C32F	probably benign	Het
Vmn2r51	T	A	7: 10,105,553 (GRCm38)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,926,989 (GRCm38)	D467N	probably damaging	Het
Vwce	A	G	19: 10,648,486 (GRCm38)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 119,679,377 (GRCm38)	D77A		Het
Yme1l1	T	A	2: 23,187,803 (GRCm38)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,534,331 (GRCm38)	Q555*	probably null	Het
Zfp773	A	C	7: 7,135,303 (GRCm38)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,343,618 (GRCm38)	A165V	possibly damaging	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
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

Predicted Primers

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

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

Posted On

2022-01-20