Mutagenetix > Incidental Mutation

Incidental Mutation 'R4534:Spopfm2'

333228

Institutional Source

Beutler Lab

Gene Symbol

Spopfm2

Ensembl Gene

ENSMUSG00000074424

Gene Name

speckle-type BTB/POZ protein family member 2

Synonyms

Gm10696

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R4534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94081719-94085500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94083757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 18 (Y18C)

Ref Sequence

ENSEMBL: ENSMUSP00000132199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161475] [ENSMUST00000167916]

AlphaFold

Q3UTC4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159115

Predicted Effect

probably benign
Transcript: ENSMUST00000161475
AA Change: Y18C

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124942
Gene: ENSMUSG00000074424
AA Change: Y18C

Domain	Start	End	E-Value	Type
MATH	24	130	4.7e-10	SMART
BTB	188	287	1.53e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167916
AA Change: Y18C

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132199
Gene: ENSMUSG00000074424
AA Change: Y18C

Domain	Start	End	E-Value	Type
MATH	24	130	4.7e-10	SMART
BTB	188	287	1.53e-25	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	C	T	4: 98,926,232 (GRCm39)	T454I	possibly damaging	Het
Arhgef4	T	C	1: 34,762,162 (GRCm39)	S473P	unknown	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Clstn3	C	T	6: 124,436,179 (GRCm39)	R190Q	probably damaging	Het
Dennd2b	A	T	7: 109,130,363 (GRCm39)	S879R	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnaaf5	C	T	5: 139,137,282 (GRCm39)	Q212*	probably null	Het
Efcc1	A	G	6: 87,730,133 (GRCm39)	D482G	probably null	Het
Eri2	T	C	7: 119,389,466 (GRCm39)	T151A	probably damaging	Het
Exoc4	C	T	6: 33,254,179 (GRCm39)	R112C	probably damaging	Het
Fyco1	A	G	9: 123,667,953 (GRCm39)	V91A	probably damaging	Het
Gm10320	G	A	13: 98,626,316 (GRCm39)	P23S	probably benign	Het
Hbs1l	A	G	10: 21,217,814 (GRCm39)	I240M	possibly damaging	Het
Heatr5b	T	C	17: 79,118,025 (GRCm39)	H806R	possibly damaging	Het
Herc3	T	C	6: 58,837,332 (GRCm39)	V335A	probably benign	Het
Ifi205	G	A	1: 173,845,207 (GRCm39)	P192S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna9	T	C	4: 88,510,285 (GRCm39)	H113R	possibly damaging	Het
Il17rd	T	C	14: 26,818,019 (GRCm39)	F236S	probably damaging	Het
Incenp	T	C	19: 9,861,303 (GRCm39)	N450S	unknown	Het
Jmjd8	C	T	17: 26,047,984 (GRCm39)		probably null	Het
Lhx3	C	T	2: 26,094,026 (GRCm39)	V66I	probably benign	Het
Nt5c2	C	T	19: 46,880,100 (GRCm39)	C336Y	probably damaging	Het
Ntrk2	G	A	13: 59,274,343 (GRCm39)	V740I	probably damaging	Het
Ocln	A	T	13: 100,648,112 (GRCm39)	I104N	possibly damaging	Het
Or14j8	T	C	17: 38,263,613 (GRCm39)	I101V	probably benign	Het
Or8g54	G	T	9: 39,707,296 (GRCm39)	L208F	probably benign	Het
Ppp1r3c	T	C	19: 36,711,522 (GRCm39)	K83E	probably damaging	Het
Sh3glb1	T	A	3: 144,405,624 (GRCm39)	E77D	possibly damaging	Het
Slc38a3	T	C	9: 107,533,405 (GRCm39)	N251S	probably benign	Het
Stox2	A	T	8: 47,646,414 (GRCm39)	S287T	probably damaging	Het
Sycp2	C	A	2: 177,996,802 (GRCm39)	V1134F	probably damaging	Het
Tenm2	C	T	11: 35,953,931 (GRCm39)	S1260N	possibly damaging	Het
Tfpi2	T	C	6: 3,968,044 (GRCm39)	N32S	possibly damaging	Het
Thoc5	C	T	11: 4,874,807 (GRCm39)	R533*	probably null	Het
Ttll2	A	T	17: 7,619,120 (GRCm39)	I269N	probably benign	Het
Uchl5	C	T	1: 143,661,954 (GRCm39)	T76I	probably benign	Het
Vmn2r102	A	G	17: 19,914,975 (GRCm39)	T847A	probably benign	Het
Xpa	T	C	4: 46,185,624 (GRCm39)	N118S	probably benign	Het
Xrcc3	A	G	12: 111,770,966 (GRCm39)	L321P	probably damaging	Het
Xylt2	T	C	11: 94,557,176 (GRCm39)	D105G	probably benign	Het

Other mutations in Spopfm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Spopfm2	APN	3	94,083,544 (GRCm39)	missense	probably damaging	1.00
IGL02057:Spopfm2	APN	3	94,083,662 (GRCm39)	missense	probably damaging	1.00
R1983:Spopfm2	UTSW	3	94,083,601 (GRCm39)	missense	possibly damaging	0.89
R2102:Spopfm2	UTSW	3	94,082,973 (GRCm39)	nonsense	probably null
R2110:Spopfm2	UTSW	3	94,082,834 (GRCm39)	missense	probably damaging	0.99
R2172:Spopfm2	UTSW	3	94,083,605 (GRCm39)	missense	possibly damaging	0.68
R2358:Spopfm2	UTSW	3	94,082,855 (GRCm39)	missense	possibly damaging	0.61
R2358:Spopfm2	UTSW	3	94,082,854 (GRCm39)	missense	possibly damaging	0.81
R4939:Spopfm2	UTSW	3	94,083,540 (GRCm39)	nonsense	probably null
R4961:Spopfm2	UTSW	3	94,082,841 (GRCm39)	nonsense	probably null
R4993:Spopfm2	UTSW	3	94,083,623 (GRCm39)	missense	probably damaging	1.00
R7154:Spopfm2	UTSW	3	94,083,526 (GRCm39)	missense	probably benign	0.17
R7218:Spopfm2	UTSW	3	94,082,856 (GRCm39)	missense	possibly damaging	0.91
R7256:Spopfm2	UTSW	3	94,083,667 (GRCm39)	missense	probably benign	0.01
R7464:Spopfm2	UTSW	3	94,083,411 (GRCm39)	missense	probably benign	0.08
R7473:Spopfm2	UTSW	3	94,083,509 (GRCm39)	nonsense	probably null
R7596:Spopfm2	UTSW	3	94,083,737 (GRCm39)	missense	probably benign	0.12
R7974:Spopfm2	UTSW	3	94,082,848 (GRCm39)	missense	probably benign	0.18
R8419:Spopfm2	UTSW	3	94,082,921 (GRCm39)	missense	probably benign	0.06
R8497:Spopfm2	UTSW	3	94,083,119 (GRCm39)	missense	possibly damaging	0.93
R8519:Spopfm2	UTSW	3	94,083,497 (GRCm39)	missense	probably benign	0.05
R8686:Spopfm2	UTSW	3	94,083,427 (GRCm39)	missense	probably benign	0.01
R9223:Spopfm2	UTSW	3	94,082,950 (GRCm39)	missense	probably damaging	1.00
R9748:Spopfm2	UTSW	3	94,083,155 (GRCm39)	missense	probably damaging	0.99
Z1177:Spopfm2	UTSW	3	94,083,409 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTTTGACAGTGGAGTAACCCCAG -3'
(R):5'- CAAGTTTCCAACATAATAGAAGGGGC -3'

Sequencing Primer
(F):5'- TGGAGTAACCCCAGGTAAACTGAC -3'
(R):5'- CCAACATAATAGAAGGGGCAATTTAG -3'

Posted On

2015-08-18