Mutagenetix > Incidental Mutation

Incidental Mutation 'R1384:Speer4f2'

163155

Institutional Source

Beutler Lab

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

MMRRC Submission

039446-MU

Accession Numbers

Essential gene?

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

Stock #

R1384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17374449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 82 (N82I)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

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

AlphaFold

E9Q366

Predicted Effect

probably damaging
Transcript: ENSMUST00000166086
AA Change: N82I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: N82I

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,871,192 (GRCm38)		noncoding transcript	Het
A930033H14Rik	A	G	10: 69,212,361 (GRCm38)		probably benign	Het
Abcf3	G	A	16: 20,559,303 (GRCm38)	G522R	probably damaging	Het
Abi3bp	A	G	16: 56,574,499 (GRCm38)	Y190C	probably damaging	Het
Alg10b	A	G	15: 90,227,582 (GRCm38)	K210E	possibly damaging	Het
Amph	G	A	13: 19,142,028 (GRCm38)	V643M	probably damaging	Het
C9	G	A	15: 6,458,934 (GRCm38)	V90I	probably benign	Het
Cacna1s	A	G	1: 136,094,971 (GRCm38)	I634V	probably benign	Het
Catip	A	G	1: 74,364,363 (GRCm38)	D153G	probably benign	Het
Cpt1c	G	A	7: 44,960,924 (GRCm38)		probably benign	Het
Cyp2c23	A	G	19: 44,013,663 (GRCm38)	S296P	probably damaging	Het
Cyp2d41-ps	G	A	15: 82,779,517 (GRCm38)		noncoding transcript	Het
Edc4	T	A	8: 105,892,382 (GRCm38)	I1327N	probably damaging	Het
Fbxl18	G	A	5: 142,886,223 (GRCm38)	A419V	probably damaging	Het
Filip1l	A	G	16: 57,571,289 (GRCm38)	K509E	possibly damaging	Het
Golga4	A	G	9: 118,565,651 (GRCm38)	E96G	probably damaging	Het
Grid2ip	T	G	5: 143,386,096 (GRCm38)		probably null	Het
Gucy1a2	A	C	9: 3,759,620 (GRCm38)	E475D	probably damaging	Het
Hipk1	A	G	3: 103,758,774 (GRCm38)		probably benign	Het
Ica1	G	A	6: 8,742,262 (GRCm38)	Q124*	probably null	Het
Igsf3	T	C	3: 101,451,296 (GRCm38)		probably null	Het
Matn2	A	G	15: 34,409,810 (GRCm38)	E462G	probably benign	Het
Men1	T	C	19: 6,339,891 (GRCm38)	S464P	probably benign	Het
Mrgpra2b	T	A	7: 47,463,994 (GRCm38)	E330V	probably damaging	Het
Myoz2	A	T	3: 123,026,116 (GRCm38)	S65T	probably damaging	Het
Nckap1	A	G	2: 80,533,670 (GRCm38)	M492T	possibly damaging	Het
Nhsl1	A	T	10: 18,408,513 (GRCm38)	K67N	probably null	Het
Nostrin	A	G	2: 69,189,062 (GRCm38)	R484G	probably benign	Het
Olfr936	T	A	9: 39,046,904 (GRCm38)	I172F	possibly damaging	Het
Otog	T	A	7: 46,273,695 (GRCm38)		probably benign	Het
P2rx5	A	G	11: 73,167,890 (GRCm38)	Y300C	probably damaging	Het
Pars2	T	C	4: 106,653,716 (GRCm38)	F232L	possibly damaging	Het
Pi4ka	A	G	16: 17,297,537 (GRCm38)		probably benign	Het
Pld3	A	G	7: 27,537,657 (GRCm38)	S266P	probably benign	Het
Pole	G	A	5: 110,323,664 (GRCm38)	V1425M	possibly damaging	Het
Prss43	A	G	9: 110,827,442 (GRCm38)	I66V	probably benign	Het
Rtn4	A	T	11: 29,736,437 (GRCm38)	N264I	probably damaging	Het
Slc45a2	A	G	15: 11,025,746 (GRCm38)	Y394C	probably benign	Het
Stard9	C	A	2: 120,673,636 (GRCm38)	S221R	probably damaging	Het
Strip1	T	C	3: 107,626,839 (GRCm38)	S160G	probably benign	Het
Tbx2	A	G	11: 85,833,492 (GRCm38)	K129R	probably benign	Het
Tfr2	T	C	5: 137,586,820 (GRCm38)		probably benign	Het
Thap12	T	C	7: 98,703,438 (GRCm38)	S17P	probably damaging	Het
Timm21	G	C	18: 84,949,262 (GRCm38)	L130V	probably damaging	Het
Tspear	T	C	10: 77,866,332 (GRCm38)	F200L	probably benign	Het
Tspyl5	T	A	15: 33,687,380 (GRCm38)	R140W	possibly damaging	Het
Ttn	T	C	2: 76,775,658 (GRCm38)	D18236G	probably damaging	Het
Upf2	G	A	2: 5,960,989 (GRCm38)	R140Q	unknown	Het
Vps4a	T	A	8: 107,036,644 (GRCm38)	I10N	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
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
R9154:Speer4f2	UTSW	5	17,376,612 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- GACTGGGGAAACATCTGGCTACTTG -3'
(R):5'- TAGATGCTACCTGGAGGTTCCAGC -3'

Sequencing Primer
(F):5'- GGAAACATCTGGCTACTTGTATCAC -3'
(R):5'- GGACCAGAAGAGTCTATTTCCC -3'

Posted On

2014-03-17