Mutagenetix > Incidental Mutation

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

045214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) 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 (GRCm38)

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]

AlphaFold

E9Q366

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 (GRCm38)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,216,230 (GRCm38)		probably null	Het
3110082I17Rik	A	G	5: 139,363,983 (GRCm38)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,279,384 (GRCm38)	K282E	probably benign	Het
Adamts17	T	C	7: 67,121,010 (GRCm38)	S956P	probably damaging	Het
Adh1	T	C	3: 138,280,474 (GRCm38)	V74A	probably damaging	Het
Akt1	A	T	12: 112,659,649 (GRCm38)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,359,551 (GRCm38)	R177*	probably null	Het
Arl11	A	G	14: 61,310,897 (GRCm38)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,720,618 (GRCm38)	S10G		Het
Bfsp2	T	A	9: 103,479,919 (GRCm38)	E103V	probably damaging	Het
Bms1	G	T	6: 118,403,161 (GRCm38)	C728*	probably null	Het
Cachd1	T	G	4: 100,918,066 (GRCm38)	N159K	probably null	Het
Cd38	A	G	5: 43,910,309 (GRCm38)	N294S	probably benign	Het
Cfap54	T	C	10: 93,016,571 (GRCm38)	N891S	probably benign	Het
Chsy3	A	T	18: 59,410,298 (GRCm38)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,482,638 (GRCm38)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,993,863 (GRCm38)	I425N	probably damaging	Het
Dock4	A	G	12: 40,828,879 (GRCm38)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,079,048 (GRCm38)	S227P	probably damaging	Het
Elf2	T	C	3: 51,261,011 (GRCm38)	R201G	probably damaging	Het
Etaa1	T	C	11: 17,940,339 (GRCm38)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,971,999 (GRCm38)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,781,284 (GRCm38)	H3849R	probably benign	Het
Hapln3	C	T	7: 79,121,824 (GRCm38)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,577,210 (GRCm38)		probably null	Het
Ifitm7	A	T	16: 13,983,736 (GRCm38)	I53N	possibly damaging	Het
Ikbkap	T	C	4: 56,787,944 (GRCm38)	H329R	probably damaging	Het
Il6ra	T	C	3: 89,871,247 (GRCm38)	N433D	probably damaging	Het
Iqch	C	T	9: 63,421,909 (GRCm38)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,632,535 (GRCm38)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,248,728 (GRCm38)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,761,674 (GRCm38)	S324P	probably damaging	Het
Nmi	A	T	2: 51,955,924 (GRCm38)		probably null	Het
Nufip1	A	G	14: 76,134,885 (GRCm38)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,428,344 (GRCm38)	I323F	probably damaging	Het
Olfr1450	A	T	19: 12,954,114 (GRCm38)	H175L	possibly damaging	Het
Olfr699	T	C	7: 106,790,483 (GRCm38)	K173E	probably benign	Het
Pcdha11	A	G	18: 37,007,238 (GRCm38)	E640G	probably benign	Het
Phip	C	T	9: 82,877,300 (GRCm38)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,115,174 (GRCm38)	M162V	probably null	Het
Podxl2	A	G	6: 88,843,505 (GRCm38)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677 (GRCm38)		probably benign	Het
Rab4a	A	T	8: 123,827,330 (GRCm38)	D40V	probably benign	Het
Scn7a	A	G	2: 66,700,193 (GRCm38)	F603L	probably benign	Het
Slfn5	A	T	11: 82,961,150 (GRCm38)	K701*	probably null	Het
Stip1	C	T	19: 7,021,810 (GRCm38)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,803,387 (GRCm38)	T163S	probably benign	Het
Tecta	T	C	9: 42,347,991 (GRCm38)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,954,876 (GRCm38)	I146T	probably damaging	Het
Ttn	C	A	2: 76,816,171 (GRCm38)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,162,949 (GRCm38)	I190V	probably damaging	Het
Usp24	T	C	4: 106,362,215 (GRCm38)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,926,076 (GRCm38)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,071,626 (GRCm38)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,951,687 (GRCm38)		probably benign	Het
Zbtb8a	G	C	4: 129,360,395 (GRCm38)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,461,709 (GRCm38)	W57R	probably 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
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
R9154:Speer4f2	UTSW	5	17,376,612 (GRCm38)	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