Mutagenetix > Incidental Mutation

Incidental Mutation 'R2878:Spopfm1'

260166

Institutional Source

Beutler Lab

Gene Symbol

Spopfm1

Ensembl Gene

ENSMUSG00000089696

Gene Name

speckle-type BTB/POZ protein family member 1

Synonyms

Gm4778

MMRRC Submission

040466-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94171343-94174091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94173787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 265 (C265F)

Ref Sequence

ENSEMBL: ENSMUSP00000096477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098878] [ENSMUST00000159517]

AlphaFold

L7N229

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098878
AA Change: C265F

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: C265F

Domain	Start	End	E-Value	Type
MATH	25	134	6.01e-8	SMART
BTB	192	291	7.66e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159517
AA Change: C261F

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: C261F

Domain	Start	End	E-Value	Type
MATH	21	130	6.01e-8	SMART
BTB	188	287	7.66e-26	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,570,817 (GRCm39)	F404L	probably benign	Het
Akr1c20	G	A	13: 4,557,774 (GRCm39)	T251M	probably damaging	Het
Amph	G	A	13: 19,288,437 (GRCm39)	V309I	possibly damaging	Het
Ano2	T	G	6: 125,840,481 (GRCm39)	F384C	probably damaging	Het
Aplf	G	A	6: 87,645,409 (GRCm39)	R32*	probably null	Het
Arhgef18	A	G	8: 3,482,759 (GRCm39)	M155V	probably benign	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Camkmt	T	C	17: 85,738,979 (GRCm39)		probably benign	Het
Capn2	T	A	1: 182,344,798 (GRCm39)	E41V	probably benign	Het
Cd53	T	C	3: 106,674,732 (GRCm39)	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dact2	A	T	17: 14,416,176 (GRCm39)	S675T	probably damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eml4	T	A	17: 83,717,603 (GRCm39)	H58Q	probably benign	Het
F13b	T	C	1: 139,429,485 (GRCm39)	M1T	probably null	Het
Fam83b	A	G	9: 76,398,092 (GRCm39)	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Fscb	A	T	12: 64,519,348 (GRCm39)	V706E	unknown	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,727,805 (GRCm39)		probably benign	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Map3k19	T	A	1: 127,751,530 (GRCm39)	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,482,954 (GRCm39)	S588G	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,818,776 (GRCm39)	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,295,880 (GRCm39)	R158H	possibly damaging	Het
Obscn	T	C	11: 58,947,014 (GRCm39)	E4337G	possibly damaging	Het
Or5b106	A	G	19: 13,123,771 (GRCm39)	L84P	probably benign	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rbm6	T	C	9: 107,729,649 (GRCm39)	E333G	probably damaging	Het
Rem2	A	G	14: 54,713,819 (GRCm39)	T31A	possibly damaging	Het
Ric1	A	G	19: 29,579,730 (GRCm39)	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,418,362 (GRCm39)	S917P	probably damaging	Het
Scn2a	G	A	2: 65,518,715 (GRCm39)	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,313,264 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,419 (GRCm39)	E714*	probably null	Het
Slc15a1	T	A	14: 121,703,345 (GRCm39)	K545N	probably benign	Het
Slc1a2	T	A	2: 102,591,512 (GRCm39)	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,997,143 (GRCm39)	S70P	probably damaging	Het
Taf1a	A	G	1: 183,179,173 (GRCm39)	E117G	probably damaging	Het
Trem2	A	G	17: 48,658,141 (GRCm39)	D135G	probably benign	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,710,735 (GRCm39)		probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Wdr45	C	T	X: 7,593,611 (GRCm39)	P271S	probably damaging	Het
Zfp410	A	C	12: 84,378,411 (GRCm39)	N245T	probably damaging	Het

Other mutations in Spopfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Spopfm1	APN	3	94,173,791 (GRCm39)	missense	probably benign	0.00
IGL02032:Spopfm1	APN	3	94,173,640 (GRCm39)	missense	probably damaging	1.00
IGL02694:Spopfm1	APN	3	94,173,459 (GRCm39)	missense	probably benign
IGL03171:Spopfm1	APN	3	94,173,762 (GRCm39)	missense	probably benign	0.00
R0195:Spopfm1	UTSW	3	94,173,229 (GRCm39)	missense	possibly damaging	0.79
R0739:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1064:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1149:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1149:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1150:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1152:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1284:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1286:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1287:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1349:Spopfm1	UTSW	3	94,173,435 (GRCm39)	missense	possibly damaging	0.94
R1358:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1372:Spopfm1	UTSW	3	94,173,435 (GRCm39)	missense	possibly damaging	0.94
R1383:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1399:Spopfm1	UTSW	3	94,173,102 (GRCm39)	missense	probably benign	0.17
R1756:Spopfm1	UTSW	3	94,173,525 (GRCm39)	missense	probably benign
R1996:Spopfm1	UTSW	3	94,173,018 (GRCm39)	missense	probably benign	0.00
R2679:Spopfm1	UTSW	3	94,173,217 (GRCm39)	missense	probably damaging	1.00
R5108:Spopfm1	UTSW	3	94,173,142 (GRCm39)	missense	probably damaging	1.00
R5706:Spopfm1	UTSW	3	94,173,959 (GRCm39)	missense	possibly damaging	0.91
R6251:Spopfm1	UTSW	3	94,173,208 (GRCm39)	missense	probably damaging	1.00
R6928:Spopfm1	UTSW	3	94,173,855 (GRCm39)	missense	probably benign	0.31
R7091:Spopfm1	UTSW	3	94,173,945 (GRCm39)	missense	probably damaging	1.00
R7264:Spopfm1	UTSW	3	94,173,045 (GRCm39)	missense	possibly damaging	0.86
R7503:Spopfm1	UTSW	3	94,173,780 (GRCm39)	missense	probably benign	0.29
R7595:Spopfm1	UTSW	3	94,173,985 (GRCm39)	missense	probably benign	0.00
R7867:Spopfm1	UTSW	3	94,173,154 (GRCm39)	missense	probably benign	0.25
R8338:Spopfm1	UTSW	3	94,173,285 (GRCm39)	missense	possibly damaging	0.83
R8525:Spopfm1	UTSW	3	94,173,862 (GRCm39)	missense	probably benign	0.33
R9069:Spopfm1	UTSW	3	94,173,153 (GRCm39)	missense	possibly damaging	0.93
R9239:Spopfm1	UTSW	3	94,173,871 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ATTCCCTGTGCACAGACTGC -3'
(R):5'- AGTGCAATGAAATCCAGGGCC -3'

Sequencing Primer
(F):5'- ACAGACTGCTGCCTGTTG -3'
(R):5'- ATGAAATCCAGGGCCTGAGTCTTC -3'

Posted On

2015-01-23