Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Scube2'

555412

Institutional Source

Beutler Lab

Gene Symbol

Scube2

Ensembl Gene

ENSMUSG00000007279

Gene Name

signal peptide, CUB domain, EGF-like 2

Synonyms

ICRFP703N2430Q5.1, 4932442O19Rik, Cegf1, ICRFP703B1614Q5.1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

PIT4445001 (G1)

Quality Score

124.008

Status

Not validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109809180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 687 (T687A)

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423
AA Change: T716A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: T716A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	479	490	N/A	INTRINSIC
low complexity region	577	594	N/A	INTRINSIC
Pfam:GCC2_GCC3	642	692	7.2e-19	PFAM
Pfam:GCC2_GCC3	699	746	2e-16	PFAM
Pfam:GCC2_GCC3	755	802	3.1e-18	PFAM
CUB	807	919	1.23e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106728
AA Change: T590A

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: T590A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	451	468	N/A	INTRINSIC
Pfam:GCC2_GCC3	516	566	6.4e-17	PFAM
Pfam:GCC2_GCC3	573	620	3.5e-14	PFAM
Pfam:GCC2_GCC3	629	676	5.4e-16	PFAM
Blast:CUB	678	727	2e-25	BLAST
Blast:CUB	730	796	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106729
AA Change: T687A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: T687A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	605	622	N/A	INTRINSIC
Pfam:GCC2_GCC3	670	717	1.8e-16	PFAM
Pfam:GCC2_GCC3	726	773	2.7e-18	PFAM
CUB	778	890	1.23e-19	SMART

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551 (GRCm38)	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748 (GRCm38)	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460 (GRCm38)	M382V		Het
Agpat3	A	T	10: 78,274,093 (GRCm38)	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012 (GRCm38)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235 (GRCm38)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856 (GRCm38)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127 (GRCm38)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm38)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467 (GRCm38)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660 (GRCm38)	V1145A		Het
Ccdc171	A	G	4: 83,661,747 (GRCm38)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036 (GRCm38)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456 (GRCm38)	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677 (GRCm38)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970 (GRCm38)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942 (GRCm38)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267 (GRCm38)	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528 (GRCm38)	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893 (GRCm38)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394 (GRCm38)	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782 (GRCm38)	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648 (GRCm38)	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466 (GRCm38)	K581N	probably benign	Het
Gria1	A	T	11: 57,185,838 (GRCm38)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304 (GRCm38)	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463 (GRCm38)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060 (GRCm38)	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919 (GRCm38)	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345 (GRCm38)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115 (GRCm38)	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790 (GRCm38)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160 (GRCm38)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558 (GRCm38)		probably null	Het
Myo3a	A	T	2: 22,542,415 (GRCm38)	E813V	possibly damaging	Het
Myo7b	T	C	18: 31,962,352 (GRCm38)	K1851R	probably damaging	Het
Myo7b	G	T	18: 31,959,466 (GRCm38)	Q2093K	possibly damaging	Het
P3h2	T	A	16: 25,984,999 (GRCm38)	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247 (GRCm38)	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026 (GRCm38)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308 (GRCm38)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777 (GRCm38)	F1046S	probably damaging	Het
Pramel41	T	G	5: 94,448,507 (GRCm38)	W468G	probably benign	Het
Prkacb	A	T	3: 146,755,691 (GRCm38)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020 (GRCm38)		probably null	Het
Rasl11b	C	A	5: 74,197,333 (GRCm38)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149 (GRCm38)	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003 (GRCm38)	K407N	probably damaging	Het
Rusf1	A	G	7: 128,276,534 (GRCm38)	V243A	probably benign	Het
Scrn3	G	A	2: 73,318,329 (GRCm38)	M81I	possibly damaging	Het
Serpinb10	T	A	1: 107,535,998 (GRCm38)	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812 (GRCm38)	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654 (GRCm38)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,153,164 (GRCm38)	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944 (GRCm38)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572 (GRCm38)	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688 (GRCm38)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471 (GRCm38)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517 (GRCm38)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871 (GRCm38)	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807 (GRCm38)	Y125H		Het
Ttc23	T	G	7: 67,667,213 (GRCm38)	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172 (GRCm38)	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211 (GRCm38)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142 (GRCm38)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226 (GRCm38)		probably null	Het
Vmn2r79	A	T	7: 87,002,200 (GRCm38)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703 (GRCm38)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826 (GRCm38)	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884 (GRCm38)	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772 (GRCm38)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949 (GRCm38)	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612 (GRCm38)	V362D	probably damaging	Het

Other mutations in Scube2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Scube2	APN	7	109,808,454 (GRCm38)	missense	probably damaging	1.00
IGL01608:Scube2	APN	7	109,843,254 (GRCm38)	missense	probably benign
IGL02080:Scube2	APN	7	109,852,478 (GRCm38)	missense	probably damaging	1.00
R0020:Scube2	UTSW	7	109,830,888 (GRCm38)	splice site	probably benign
R0020:Scube2	UTSW	7	109,830,888 (GRCm38)	splice site	probably benign
R0106:Scube2	UTSW	7	109,846,908 (GRCm38)	splice site	probably benign
R0230:Scube2	UTSW	7	109,824,764 (GRCm38)	critical splice donor site	probably null
R0255:Scube2	UTSW	7	109,824,872 (GRCm38)	missense	probably damaging	0.98
R0427:Scube2	UTSW	7	109,824,837 (GRCm38)	missense	probably benign	0.00
R0612:Scube2	UTSW	7	109,804,764 (GRCm38)	splice site	probably benign
R0658:Scube2	UTSW	7	109,837,120 (GRCm38)	splice site	probably benign
R0687:Scube2	UTSW	7	109,829,128 (GRCm38)	missense	possibly damaging	0.47
R1087:Scube2	UTSW	7	109,831,675 (GRCm38)	missense	probably damaging	1.00
R1366:Scube2	UTSW	7	109,804,614 (GRCm38)	missense	probably damaging	1.00
R1635:Scube2	UTSW	7	109,843,214 (GRCm38)	missense	possibly damaging	0.90
R1797:Scube2	UTSW	7	109,831,675 (GRCm38)	missense	probably damaging	1.00
R1972:Scube2	UTSW	7	109,809,214 (GRCm38)	missense	probably benign	0.16
R2080:Scube2	UTSW	7	109,808,505 (GRCm38)	missense	possibly damaging	0.77
R2254:Scube2	UTSW	7	109,825,459 (GRCm38)	missense	possibly damaging	0.47
R2315:Scube2	UTSW	7	109,804,701 (GRCm38)	missense	probably damaging	1.00
R2325:Scube2	UTSW	7	109,843,954 (GRCm38)	missense	probably damaging	1.00
R3723:Scube2	UTSW	7	109,808,406 (GRCm38)	splice site	probably benign
R3887:Scube2	UTSW	7	109,843,176 (GRCm38)	splice site	probably benign
R3946:Scube2	UTSW	7	109,857,590 (GRCm38)	missense	possibly damaging	0.81
R4030:Scube2	UTSW	7	109,831,771 (GRCm38)	missense	probably benign	0.09
R4621:Scube2	UTSW	7	109,800,650 (GRCm38)	missense	possibly damaging	0.63
R4684:Scube2	UTSW	7	109,810,713 (GRCm38)	missense	probably damaging	0.96
R4736:Scube2	UTSW	7	109,831,205 (GRCm38)	missense	probably benign	0.01
R5096:Scube2	UTSW	7	109,799,244 (GRCm38)	utr 3 prime	probably benign
R5266:Scube2	UTSW	7	109,809,230 (GRCm38)	missense	probably damaging	1.00
R5579:Scube2	UTSW	7	109,810,737 (GRCm38)	missense	probably damaging	1.00
R5669:Scube2	UTSW	7	109,825,439 (GRCm38)	missense	probably benign	0.04
R5838:Scube2	UTSW	7	109,808,444 (GRCm38)	missense	probably damaging	1.00
R5916:Scube2	UTSW	7	109,831,724 (GRCm38)	missense	possibly damaging	0.77
R6056:Scube2	UTSW	7	109,833,013 (GRCm38)	nonsense	probably null
R6731:Scube2	UTSW	7	109,810,737 (GRCm38)	missense	probably damaging	1.00
R6785:Scube2	UTSW	7	109,810,617 (GRCm38)	missense	probably benign
R8197:Scube2	UTSW	7	109,808,477 (GRCm38)	missense	possibly damaging	0.53
R8250:Scube2	UTSW	7	109,864,170 (GRCm38)	missense	probably benign	0.20
R8273:Scube2	UTSW	7	109,809,176 (GRCm38)	missense	probably benign	0.00
R8427:Scube2	UTSW	7	109,800,590 (GRCm38)	missense	probably damaging	1.00
R8882:Scube2	UTSW	7	109,852,473 (GRCm38)	missense	probably damaging	1.00
R9258:Scube2	UTSW	7	109,799,308 (GRCm38)	missense	probably damaging	1.00
R9428:Scube2	UTSW	7	109,829,138 (GRCm38)	missense	probably benign	0.32
R9476:Scube2	UTSW	7	109,831,762 (GRCm38)	missense	probably damaging	1.00
R9510:Scube2	UTSW	7	109,831,762 (GRCm38)	missense	probably damaging	1.00
R9709:Scube2	UTSW	7	109,831,764 (GRCm38)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,843,201 (GRCm38)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,838,127 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTGCACCAGACTCAATGG -3'
(R):5'- TGTGCAAACCTGAGGCATTAC -3'

Sequencing Primer
(F):5'- GGAACTCATTAGAGAATGGCATTCC -3'
(R):5'- CTCACTGATGTGTAAGCTGAAGTCAG -3'

Posted On

2019-06-07