Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Speer4f2'

426554

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

Accession Numbers

Essential gene?

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

Stock #

R5421 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17374358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 52 (T52S)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166086
AA Change: T52S

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: T52S

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,550,027 (GRCm38)	Q882L	probably damaging	Het
Afdn	T	C	17: 13,832,406 (GRCm38)	V525A	probably benign	Het
AI987944	T	C	7: 41,374,776 (GRCm38)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,527,407 (GRCm38)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,399,584 (GRCm38)	S685P	probably benign	Het
Blnk	C	A	19: 40,968,523 (GRCm38)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,385,898 (GRCm38)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,870,418 (GRCm38)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,522,790 (GRCm38)	P645L	probably benign	Het
Cadm2	A	T	16: 66,771,627 (GRCm38)	C248*	probably null	Het
Cdk6	T	C	5: 3,473,120 (GRCm38)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm38)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,567,115 (GRCm38)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,863,119 (GRCm38)		probably null	Het
Dnah2	G	A	11: 69,435,636 (GRCm38)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,314,064 (GRCm38)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,669,757 (GRCm38)	Y262H	probably damaging	Het
Far2	A	G	6: 148,146,192 (GRCm38)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,840,644 (GRCm38)	R139H	probably benign	Het
Fxn	A	T	19: 24,277,285 (GRCm38)		probably null	Het
Galnt13	A	C	2: 54,857,896 (GRCm38)	N263T	probably damaging	Het
Gje1	G	A	10: 14,716,684 (GRCm38)	S118L	probably damaging	Het
Htr5a	G	T	5: 27,850,987 (GRCm38)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,316,041 (GRCm38)	Y772*	probably null	Het
Kif12	T	C	4: 63,171,428 (GRCm38)	S59G	probably benign	Het
Kifc3	C	T	8: 95,109,845 (GRCm38)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,598,443 (GRCm38)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,634,359 (GRCm38)		probably null	Het
Nek1	A	C	8: 61,006,677 (GRCm38)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,252,745 (GRCm38)	T81I	probably benign	Het
Or5p68	G	C	7: 108,346,975 (GRCm38)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 174,152,295 (GRCm38)	R260*	probably null	Het
Palld	C	T	8: 61,516,550 (GRCm38)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 20,956,706 (GRCm38)	Y169N	probably benign	Het
Rad50	T	C	11: 53,674,946 (GRCm38)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,459,367 (GRCm38)	K915*	probably null	Het
Rasal2	T	C	1: 157,299,141 (GRCm38)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,951,830 (GRCm38)		probably null	Het
Rnf6	C	T	5: 146,210,529 (GRCm38)	V560I	probably benign	Het
Samd8	A	G	14: 21,792,495 (GRCm38)	D295G	probably damaging	Het
Scart1	T	C	7: 140,223,900 (GRCm38)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,523,851 (GRCm38)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495 (GRCm38)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,574,265 (GRCm38)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,224,197 (GRCm38)	T420A	probably damaging	Het
Spta1	A	G	1: 174,215,529 (GRCm38)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 120,080,780 (GRCm38)		noncoding transcript	Het
Syt9	T	C	7: 107,425,356 (GRCm38)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,518,395 (GRCm38)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm38)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm38)	M40I	possibly damaging	Het
Ucp1	G	A	8: 83,290,691 (GRCm38)	A37T	probably benign	Het
Vapa	A	G	17: 65,595,036 (GRCm38)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,583,620 (GRCm38)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,286,535 (GRCm38)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,446,936 (GRCm38)	T604A	probably benign	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het
Wnk1	A	G	6: 119,952,818 (GRCm38)	V1246A	probably damaging	Het
Wwc1	T	G	11: 35,876,063 (GRCm38)	D455A	possibly damaging	Het
Wwc1	C	T	11: 35,910,296 (GRCm38)	E105K	possibly damaging	Het
Zfp426	G	A	9: 20,470,719 (GRCm38)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,817,910 (GRCm38)	N105K	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
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
R9154:Speer4f2	UTSW	5	17,376,612 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- ACTGGGGAAACATCTGGCTAC -3'
(R):5'- CATTGCAGACTCCAGATTGACAC -3'

Sequencing Primer
(F):5'- GGAAACATCTGGCTACTTGTATCACC -3'
(R):5'- CCAGATTGACACTGCAGGTATTCG -3'

Posted On

2016-09-01