Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Spopfm1'

550199

Institutional Source

Beutler Lab

Gene Symbol

Spopfm1

Ensembl Gene

ENSMUSG00000089696

Gene Name

speckle-type BTB/POZ protein family member 1

Synonyms

Gm4778

MMRRC Submission

045185-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94171343-94174091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94173945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 314 (F314L)

Ref Sequence

ENSEMBL: ENSMUSP00000123868 (fasta)

Gene Model

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

AlphaFold

L7N229

Predicted Effect

probably damaging
Transcript: ENSMUST00000098878
AA Change: F318L

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

SMART Domains

Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: F318L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159517
AA Change: F314L

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

SMART Domains

Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: F314L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,173 (GRCm39)	I111L	probably damaging	Het
Ank1	A	G	8: 23,548,679 (GRCm39)	D11G	probably benign	Het
Ank2	G	T	3: 126,817,000 (GRCm39)	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692 (GRCm39)	K205E	probably benign	Het
Brca1	T	A	11: 101,417,253 (GRCm39)	M294L	probably benign	Het
Capn1	A	G	19: 6,041,586 (GRCm39)	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,758,670 (GRCm39)	D377E	probably benign	Het
Col6a2	C	T	10: 76,450,925 (GRCm39)	V39I	unknown	Het
Crybg3	T	A	16: 59,377,531 (GRCm39)	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,893,206 (GRCm39)	K3380R	probably benign	Het
Eml5	T	C	12: 98,768,733 (GRCm39)	I1400M	probably benign	Het
Fancd2	A	G	6: 113,522,062 (GRCm39)	D219G	probably damaging	Het
Fras1	A	G	5: 96,856,535 (GRCm39)	S1973G	probably benign	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
G3bp1	T	A	11: 55,387,047 (GRCm39)	H271Q	possibly damaging	Het
Glce	A	G	9: 61,967,870 (GRCm39)	V427A	probably damaging	Het
Gm5141	T	C	13: 62,921,778 (GRCm39)	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,805,294 (GRCm39)	F128I	probably damaging	Het
H2-T13	T	C	17: 36,394,833 (GRCm39)	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,024,707 (GRCm39)	L393W	probably damaging	Het
Heg1	T	C	16: 33,547,090 (GRCm39)	S650P	probably benign	Het
Hspa4l	T	A	3: 40,736,024 (GRCm39)	N569K	probably benign	Het
Ifi206	A	G	1: 173,301,441 (GRCm39)	F746L	unknown	Het
Ivl	T	C	3: 92,479,549 (GRCm39)	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,680,184 (GRCm39)	D433E	probably damaging	Het
Mgam	T	C	6: 40,745,210 (GRCm39)	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 10,986,092 (GRCm39)	L206M	probably damaging	Het
Msln	A	T	17: 25,969,054 (GRCm39)	C444S	probably damaging	Het
Mta1	A	G	12: 113,100,022 (GRCm39)	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Naa15	T	C	3: 51,366,177 (GRCm39)		probably null	Het
Nadk	A	G	4: 155,672,215 (GRCm39)	H302R	probably benign	Het
Neb	T	A	2: 52,146,124 (GRCm39)	N15I		Het
Nup153	A	T	13: 46,837,404 (GRCm39)	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,226,243 (GRCm39)	I763T	probably damaging	Het
Or4b13	T	C	2: 90,082,807 (GRCm39)	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,113,727 (GRCm39)	I107V	probably benign	Het
Prmt5	A	G	14: 54,748,799 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,790,116 (GRCm39)	S79P	probably damaging	Het
Reln	T	C	5: 22,104,027 (GRCm39)	I3315V	probably null	Het
Rnf223	T	C	4: 156,217,156 (GRCm39)	V177A	probably benign	Het
Slc20a1	C	T	2: 129,050,192 (GRCm39)	T450M	possibly damaging	Het
Smg5	C	T	3: 88,258,654 (GRCm39)	P542S	probably benign	Het
Sorl1	T	A	9: 41,913,930 (GRCm39)	Q1333L	probably benign	Het
Spag5	T	A	11: 78,204,017 (GRCm39)		probably null	Het
Tdp2	T	A	13: 25,022,207 (GRCm39)	F209I	probably damaging	Het
Tgm4	C	A	9: 122,869,525 (GRCm39)	L35M	probably damaging	Het
Tma7	A	G	9: 108,911,580 (GRCm39)		probably benign	Het
Tmprss4	A	T	9: 45,095,571 (GRCm39)	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,223,268 (GRCm39)	M39K	probably benign	Het
Ttn	T	A	2: 76,543,912 (GRCm39)	T33025S	probably benign	Het
Tut1	A	G	19: 8,943,175 (GRCm39)	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,200,904 (GRCm39)	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,438,936 (GRCm39)	G353V	probably benign	Het
Zfp747l1	C	A	7: 126,983,534 (GRCm39)	A523S	possibly damaging	Het
Zfp879	T	A	11: 50,724,222 (GRCm39)	H278L	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
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
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'- TGGGCTTCATTTACACTGGG -3'
(R):5'- TTGGAAGACAGATGTTGGTCATAG -3'

Sequencing Primer
(F):5'- GCTTCATTTACACTGGGAAGGCAC -3'
(R):5'- CAGATGTTGGTCATAGATTTCCATCC -3'

Posted On

2019-05-15