Mutagenetix > Incidental Mutations

Incidental Mutation 'R7129:Speer4f2'

552508

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

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17377448 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 223 (D223G)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: D223G

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

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,355	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,216,230		probably null	Het
3110082I17Rik	A	G	5: 139,363,983	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,279,384	K282E	probably benign	Het
Adamts17	T	C	7: 67,121,010	S956P	probably damaging	Het
Adh1	T	C	3: 138,280,474	V74A	probably damaging	Het
Akt1	A	T	12: 112,659,649	M63K	probably benign	Het
Arfrp1	G	A	2: 181,359,551	R177*	probably null	Het
Arl11	A	G	14: 61,310,897	E52G	possibly damaging	Het
BC051019	T	C	7: 109,720,618	S10G		Het
Bfsp2	T	A	9: 103,479,919	E103V	probably damaging	Het
Bms1	G	T	6: 118,403,161	C728*	probably null	Het
Cachd1	T	G	4: 100,918,066	N159K	probably null	Het
Cd38	A	G	5: 43,910,309	N294S	probably benign	Het
Cfap54	T	C	10: 93,016,571	N891S	probably benign	Het
Chsy3	A	T	18: 59,410,298	H836L	probably damaging	Het
Cldn16	A	T	16: 26,482,638	D232V	probably damaging	Het
Dhx33	A	T	11: 70,993,863	I425N	probably damaging	Het
Dock4	A	G	12: 40,828,879	N1506D	probably damaging	Het
Dok7	T	C	5: 35,079,048	S227P	probably damaging	Het
Elf2	T	C	3: 51,261,011	R201G	probably damaging	Het
Etaa1	T	C	11: 17,940,339	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,971,999	Y926H	probably damaging	Het
Fras1	A	G	5: 96,781,284	H3849R	probably benign	Het
Hapln3	C	T	7: 79,121,824	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,577,210		probably null	Het
Ifitm7	A	T	16: 13,983,736	I53N	possibly damaging	Het
Ikbkap	T	C	4: 56,787,944	H329R	probably damaging	Het
Il6ra	T	C	3: 89,871,247	N433D	probably damaging	Het
Iqch	C	T	9: 63,421,909	V1048I	probably benign	Het
Kif20a	A	G	18: 34,632,535	T862A	probably benign	Het
Mcrs1	G	A	15: 99,248,728	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,761,674	S324P	probably damaging	Het
Nmi	A	T	2: 51,955,924		probably null	Het
Nufip1	A	G	14: 76,134,885	K480E	possibly damaging	Het
Oit3	T	A	10: 59,428,344	I323F	probably damaging	Het
Olfr1450	A	T	19: 12,954,114	H175L	possibly damaging	Het
Olfr699	T	C	7: 106,790,483	K173E	probably benign	Het
Pcdha11	A	G	18: 37,007,238	E640G	probably benign	Het
Phip	C	T	9: 82,877,300	V1366I	probably damaging	Het
Plin5	T	C	17: 56,115,174	M162V	probably null	Het
Podxl2	A	G	6: 88,843,505		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab4a	A	T	8: 123,827,330	D40V	probably benign	Het
Scn7a	A	G	2: 66,700,193	F603L	probably benign	Het
Slfn5	A	T	11: 82,961,150	K701*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,803,387	T163S	probably benign	Het
Tecta	T	C	9: 42,347,991	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,954,876	I146T	probably damaging	Het
Ttn	C	A	2: 76,816,171	G12844W	probably damaging	Het
Usp22	T	C	11: 61,162,949	I190V	probably damaging	Het
Usp24	T	C	4: 106,362,215	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,926,076	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,071,626	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,951,687		probably benign	Het
Zbtb8a	G	C	4: 129,360,395	A102G	probably damaging	Het
Zfp51	T	C	17: 21,461,709	W57R	probably damaging	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Speer4f2	APN	5	17376567	missense	possibly damaging	0.94
IGL02092:Speer4f2	APN	5	17376629	nonsense	probably null
IGL03100:Speer4f2	APN	5	17376530	missense	probably damaging	0.99
R0939:Speer4f2	UTSW	5	17374404	missense	probably damaging	0.99
R1384:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R1528:Speer4f2	UTSW	5	17376542	missense
R1873:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R3608:Speer4f2	UTSW	5	17374494	missense	probably benign	0.03
R4972:Speer4f2	UTSW	5	17374425	missense	probably benign	0.27
R5421:Speer4f2	UTSW	5	17374358	missense	possibly damaging	0.88
R5450:Speer4f2	UTSW	5	17373219	missense	possibly damaging	0.85
R5452:Speer4f2	UTSW	5	17376500	missense	possibly damaging	0.93
R5531:Speer4f2	UTSW	5	17376528	missense	possibly damaging	0.57
R5924:Speer4f2	UTSW	5	17376624	missense	probably damaging	1.00
R6454:Speer4f2	UTSW	5	17374433	missense	probably damaging	0.99
R6553:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6585:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6649:Speer4f2	UTSW	5	17375769	missense	probably benign	0.05
R6878:Speer4f2	UTSW	5	17375767	missense	probably damaging	0.99
R7089:Speer4f2	UTSW	5	17376663	missense
R7448:Speer4f2	UTSW	5	17376542	missense
R7654:Speer4f2	UTSW	5	17374415	missense

Predicted Primers

PCR Primer
(F):5'- GCCTGTCTGCAGATTTAACACC -3'
(R):5'- AGATTCATCTGAGAAAGATTGTGGG -3'

Sequencing Primer
(F):5'- CAGCTACCATGACTTTCC -3'
(R):5'- CATCTGAGAAAGATTGTGGGTGCTG -3'

Posted On

2019-05-15