Mutagenetix > Incidental Mutation

Incidental Mutation 'R1064:Spopfm1'

85946

Institutional Source

Beutler Lab

Gene Symbol

Spopfm1

Ensembl Gene

ENSMUSG00000089696

Gene Name

speckle-type BTB/POZ protein family member 1

Synonyms

Gm4778

MMRRC Submission

039150-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R1064 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94171343-94174091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94173102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 37 (M37V)

Ref Sequence

ENSEMBL: ENSMUSP00000096477 (fasta)

Gene Model

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

AlphaFold

L7N229

Predicted Effect

probably benign
Transcript: ENSMUST00000098878
AA Change: M37V

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: M37V

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: M33V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: M33V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	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
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
R2878:Spopfm1	UTSW	3	94,173,787 (GRCm39)	missense	possibly damaging	0.69
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'- AGGGAGAGGGAGATTTAAAACTCACCAT -3'
(R):5'- TCACCTGGCAGCAGAGGGTAA -3'

Sequencing Primer
(F):5'- TGGGGAAATTTAGGAGAAATTGACAC -3'
(R):5'- GAAAGCTAACGACTTTCGTGCTC -3'

Posted On

2013-11-18