Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Sugp1'

215282

Institutional Source

Beutler Lab

Gene Symbol

Sugp1

Ensembl Gene

ENSMUSG00000011306

Gene Name

SURP and G patch domain containing 1

Synonyms

Sf4

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70495463-70524997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70524190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 598 (D598E)

Ref Sequence

ENSEMBL: ENSMUSP00000011450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]

AlphaFold

Q8CH02

PDB Structure

Solution structure of SURP domain in BAB30904 [SOLUTION NMR]
Solution structure of SURP domain in splicing factor 4 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000011450
AA Change: D598E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306
AA Change: D598E

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
SWAP	185	239	8e-20	SMART
SWAP	260	314	4.09e-17	SMART
low complexity region	344	365	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
G_patch	558	605	3.25e-17	SMART
low complexity region	628	643	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049197

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	216	357	4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110160

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	218	357	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211808

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mc2r	T	A	18: 68,540,853 (GRCm39)	T147S	probably benign	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or4c3	G	A	2: 89,851,505 (GRCm39)	R302C	probably benign	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	Het

Other mutations in Sugp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02345:Sugp1	APN	8	70,495,734 (GRCm39)	unclassified	probably benign
IGL02532:Sugp1	APN	8	70,512,469 (GRCm39)	missense	possibly damaging	0.91
IGL02887:Sugp1	APN	8	70,522,776 (GRCm39)	missense	probably damaging	1.00
IGL02962:Sugp1	APN	8	70,512,512 (GRCm39)	splice site	probably benign
IGL02966:Sugp1	APN	8	70,523,758 (GRCm39)	unclassified	probably benign
IGL03383:Sugp1	APN	8	70,522,217 (GRCm39)	unclassified	probably benign
R0348:Sugp1	UTSW	8	70,522,658 (GRCm39)	missense	probably damaging	1.00
R0376:Sugp1	UTSW	8	70,505,288 (GRCm39)	missense	probably damaging	1.00
R0511:Sugp1	UTSW	8	70,512,013 (GRCm39)	missense	probably damaging	1.00
R1931:Sugp1	UTSW	8	70,524,190 (GRCm39)	missense	probably benign	0.05
R1933:Sugp1	UTSW	8	70,509,225 (GRCm39)	missense	possibly damaging	0.92
R1934:Sugp1	UTSW	8	70,509,225 (GRCm39)	missense	possibly damaging	0.92
R2391:Sugp1	UTSW	8	70,512,061 (GRCm39)	splice site	probably null
R2484:Sugp1	UTSW	8	70,522,174 (GRCm39)	missense	possibly damaging	0.89
R4500:Sugp1	UTSW	8	70,509,038 (GRCm39)	missense	probably benign
R4876:Sugp1	UTSW	8	70,523,834 (GRCm39)	missense	probably damaging	0.99
R5120:Sugp1	UTSW	8	70,501,317 (GRCm39)	missense	probably benign	0.02
R5724:Sugp1	UTSW	8	70,522,799 (GRCm39)	missense	probably damaging	0.98
R6736:Sugp1	UTSW	8	70,511,953 (GRCm39)	missense	probably benign	0.44
R6967:Sugp1	UTSW	8	70,513,202 (GRCm39)	missense	possibly damaging	0.79
R7107:Sugp1	UTSW	8	70,522,800 (GRCm39)	missense	probably benign	0.00
R7388:Sugp1	UTSW	8	70,505,269 (GRCm39)	missense	probably damaging	0.98
R7949:Sugp1	UTSW	8	70,509,153 (GRCm39)	missense	possibly damaging	0.48
R8354:Sugp1	UTSW	8	70,524,247 (GRCm39)	nonsense	probably null
R8398:Sugp1	UTSW	8	70,523,783 (GRCm39)	missense	probably damaging	1.00
R8454:Sugp1	UTSW	8	70,524,247 (GRCm39)	nonsense	probably null
R9269:Sugp1	UTSW	8	70,509,220 (GRCm39)	missense	probably benign	0.01
R9654:Sugp1	UTSW	8	70,522,656 (GRCm39)	missense	probably damaging	1.00
R9738:Sugp1	UTSW	8	70,505,256 (GRCm39)	missense	probably benign	0.00
R9799:Sugp1	UTSW	8	70,523,068 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAAGGTTCCAGCTAGTGACAAC -3'
(R):5'- GCTACAGCAGGGGTTTTGTC -3'

Sequencing Primer
(F):5'- AGTATGTAAAGCCTTGCTACCC -3'
(R):5'- CTACAGCAGGGGTTTTGTCATCTC -3'

Posted On

2014-07-14