Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03383:Scaf11'

420776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scaf11

Ensembl Gene

ENSMUSG00000033228

Gene Name

SR-related CTD-associated factor 11

Synonyms

2610510E10Rik, Srsf2ip, SIP1, Sfrs2ip, SRRP129, CASP11, 1110061H03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03383

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

splice site (617 bp from exon)

DNA Base Change (assembly)

T to C at 96318064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047835] [ENSMUST00000227069] [ENSMUST00000228535]

AlphaFold

E9PZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000047835
AA Change: D500G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: D500G

Domain	Start	End	E-Value	Type
RING	41	81	1.57e-2	SMART
low complexity region	308	327	N/A	INTRINSIC
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC
low complexity region	852	860	N/A	INTRINSIC
low complexity region	919	978	N/A	INTRINSIC
low complexity region	1089	1108	N/A	INTRINSIC
low complexity region	1177	1188	N/A	INTRINSIC
low complexity region	1283	1311	N/A	INTRINSIC
low complexity region	1346	1359	N/A	INTRINSIC
Blast:IG_like	1374	1415	5e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000227069
AA Change: D500G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228260

Predicted Effect

probably null
Transcript: ENSMUST00000228535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	C	T	4: 111,514,620 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,011,904 (GRCm39)		probably benign	Het
Clmp	A	G	9: 40,685,737 (GRCm39)	N211S	probably damaging	Het
Cnot2	A	G	10: 116,330,722 (GRCm39)		probably benign	Het
Cntn6	A	G	6: 104,753,418 (GRCm39)		probably benign	Het
Dnajb9	C	T	12: 44,255,096 (GRCm39)		probably benign	Het
Ece2	T	A	16: 20,451,847 (GRCm39)	N411K	possibly damaging	Het
Fshr	A	G	17: 89,354,127 (GRCm39)	I77T	possibly damaging	Het
Fshr	A	G	17: 89,293,121 (GRCm39)	M519T	probably damaging	Het
Gm10654	G	A	8: 71,384,775 (GRCm39)		noncoding transcript	Het
Gm5093	A	G	17: 46,750,517 (GRCm39)	I170T	probably benign	Het
Meis3	A	G	7: 15,917,744 (GRCm39)	K299R	probably damaging	Het
Nxf1	T	C	19: 8,741,061 (GRCm39)	F15L	probably damaging	Het
Nxpe3	T	C	16: 55,670,076 (GRCm39)	D343G	probably benign	Het
Or4a73	A	T	2: 89,420,656 (GRCm39)	Y268N	probably benign	Het
Polr3k	A	G	2: 181,507,820 (GRCm39)	T65A	probably damaging	Het
Preb	A	T	5: 31,115,665 (GRCm39)	W222R	probably damaging	Het
Psmd11	T	C	11: 80,360,671 (GRCm39)	I56T	probably damaging	Het
Rtkn2	A	G	10: 67,853,667 (GRCm39)	T232A	probably damaging	Het
Slc4a10	A	T	2: 62,097,780 (GRCm39)	K493M	probably damaging	Het
Stard10	A	G	7: 100,991,777 (GRCm39)	K112E	probably damaging	Het
Sugp1	A	T	8: 70,522,217 (GRCm39)		probably benign	Het
Tasor	A	G	14: 27,163,918 (GRCm39)	I235V	possibly damaging	Het
Tmem156	T	C	5: 65,233,040 (GRCm39)	E139G	probably damaging	Het
Tubd1	C	T	11: 86,439,834 (GRCm39)		probably benign	Het
Uap1	G	A	1: 169,986,460 (GRCm39)	T174M	probably damaging	Het
Vmn2r13	T	C	5: 109,304,398 (GRCm39)	T678A	probably damaging	Het
Vmn2r84	A	T	10: 130,222,556 (GRCm39)	C555S	probably damaging	Het
Vps13d	T	C	4: 144,894,889 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,254,573 (GRCm39)		probably null	Het
Wee1	A	G	7: 109,738,899 (GRCm39)	N590S	probably damaging	Het
Zfp112	C	A	7: 23,825,103 (GRCm39)	S357Y	probably damaging	Het
Zfp423	T	A	8: 88,586,080 (GRCm39)	K48*	probably null	Het
Zscan4d	A	G	7: 10,896,692 (GRCm39)	V226A	probably benign	Het

Other mutations in Scaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Scaf11	APN	15	96,316,461 (GRCm39)	missense	possibly damaging	0.94
IGL01386:Scaf11	APN	15	96,318,361 (GRCm39)	missense	probably damaging	1.00
IGL01449:Scaf11	APN	15	96,317,007 (GRCm39)	missense	probably benign	0.04
IGL01547:Scaf11	APN	15	96,316,310 (GRCm39)	missense	probably benign	0.14
IGL01697:Scaf11	APN	15	96,321,504 (GRCm39)	splice site	probably benign
IGL01780:Scaf11	APN	15	96,318,725 (GRCm39)	missense	possibly damaging	0.94
IGL02311:Scaf11	APN	15	96,316,637 (GRCm39)	missense	probably benign	0.01
IGL02740:Scaf11	APN	15	96,316,883 (GRCm39)	missense	probably benign	0.01
IGL02805:Scaf11	APN	15	96,318,063 (GRCm39)	missense	possibly damaging	0.69
R0173:Scaf11	UTSW	15	96,318,075 (GRCm39)	missense	probably benign	0.00
R0379:Scaf11	UTSW	15	96,329,697 (GRCm39)	missense	probably damaging	1.00
R0508:Scaf11	UTSW	15	96,318,368 (GRCm39)	missense	probably damaging	1.00
R0648:Scaf11	UTSW	15	96,316,339 (GRCm39)	missense	possibly damaging	0.72
R0653:Scaf11	UTSW	15	96,316,522 (GRCm39)	nonsense	probably null
R0727:Scaf11	UTSW	15	96,317,324 (GRCm39)	missense	probably damaging	1.00
R0829:Scaf11	UTSW	15	96,316,570 (GRCm39)	missense	probably damaging	1.00
R0839:Scaf11	UTSW	15	96,321,434 (GRCm39)	missense	probably damaging	1.00
R0843:Scaf11	UTSW	15	96,329,706 (GRCm39)	missense	probably damaging	1.00
R0882:Scaf11	UTSW	15	96,316,176 (GRCm39)	missense	possibly damaging	0.75
R1994:Scaf11	UTSW	15	96,316,721 (GRCm39)	nonsense	probably null
R2092:Scaf11	UTSW	15	96,313,708 (GRCm39)	missense	probably damaging	0.98
R2125:Scaf11	UTSW	15	96,317,196 (GRCm39)	missense	possibly damaging	0.69
R2200:Scaf11	UTSW	15	96,318,404 (GRCm39)	missense	probably damaging	1.00
R3409:Scaf11	UTSW	15	96,312,745 (GRCm39)	missense	probably damaging	1.00
R3751:Scaf11	UTSW	15	96,316,417 (GRCm39)	missense	probably damaging	0.99
R4308:Scaf11	UTSW	15	96,344,396 (GRCm39)	missense	probably benign	0.00
R4424:Scaf11	UTSW	15	96,316,309 (GRCm39)	missense	possibly damaging	0.78
R4519:Scaf11	UTSW	15	96,322,719 (GRCm39)	missense	probably damaging	1.00
R4646:Scaf11	UTSW	15	96,317,981 (GRCm39)	splice site	probably null
R4647:Scaf11	UTSW	15	96,317,981 (GRCm39)	splice site	probably null
R4724:Scaf11	UTSW	15	96,312,729 (GRCm39)	missense	probably benign	0.40
R4748:Scaf11	UTSW	15	96,318,302 (GRCm39)	nonsense	probably null
R4926:Scaf11	UTSW	15	96,316,123 (GRCm39)	missense	possibly damaging	0.87
R4978:Scaf11	UTSW	15	96,313,798 (GRCm39)	missense	probably damaging	1.00
R5105:Scaf11	UTSW	15	96,318,313 (GRCm39)	missense	probably damaging	1.00
R5120:Scaf11	UTSW	15	96,317,423 (GRCm39)	missense	probably benign	0.26
R5277:Scaf11	UTSW	15	96,317,107 (GRCm39)	missense	probably damaging	1.00
R5377:Scaf11	UTSW	15	96,315,001 (GRCm39)	missense	possibly damaging	0.55
R5394:Scaf11	UTSW	15	96,317,339 (GRCm39)	missense	probably benign	0.28
R5481:Scaf11	UTSW	15	96,318,498 (GRCm39)	missense	probably damaging	1.00
R5831:Scaf11	UTSW	15	96,314,962 (GRCm39)	missense	probably benign	0.14
R5941:Scaf11	UTSW	15	96,318,189 (GRCm39)	missense	probably damaging	0.99
R6123:Scaf11	UTSW	15	96,318,335 (GRCm39)	missense	probably benign	0.29
R6166:Scaf11	UTSW	15	96,322,543 (GRCm39)	missense	probably damaging	1.00
R6504:Scaf11	UTSW	15	96,317,341 (GRCm39)	splice site	probably null
R6863:Scaf11	UTSW	15	96,317,300 (GRCm39)	missense	probably damaging	1.00
R7135:Scaf11	UTSW	15	96,318,209 (GRCm39)	missense	possibly damaging	0.82
R7193:Scaf11	UTSW	15	96,317,042 (GRCm39)	missense	probably damaging	1.00
R7384:Scaf11	UTSW	15	96,318,268 (GRCm39)	missense	possibly damaging	0.92
R7790:Scaf11	UTSW	15	96,316,942 (GRCm39)	missense	possibly damaging	0.60
R8056:Scaf11	UTSW	15	96,312,698 (GRCm39)	nonsense	probably null
R8104:Scaf11	UTSW	15	96,316,483 (GRCm39)	missense	probably benign	0.34
R8129:Scaf11	UTSW	15	96,317,350 (GRCm39)	missense	probably damaging	1.00
R8134:Scaf11	UTSW	15	96,318,592 (GRCm39)	missense	probably damaging	1.00
R8523:Scaf11	UTSW	15	96,316,988 (GRCm39)	missense	probably damaging	1.00
R8743:Scaf11	UTSW	15	96,313,669 (GRCm39)	missense	probably benign	0.16
R8955:Scaf11	UTSW	15	96,318,371 (GRCm39)	missense	probably damaging	0.98
R8987:Scaf11	UTSW	15	96,316,557 (GRCm39)	nonsense	probably null
R9118:Scaf11	UTSW	15	96,319,886 (GRCm39)	missense	probably benign
R9127:Scaf11	UTSW	15	96,312,764 (GRCm39)	missense	probably benign	0.01
R9534:Scaf11	UTSW	15	96,318,209 (GRCm39)	missense	possibly damaging	0.84
R9628:Scaf11	UTSW	15	96,317,398 (GRCm39)	missense	probably benign	0.15
R9630:Scaf11	UTSW	15	96,316,049 (GRCm39)	missense	probably damaging	1.00
R9688:Scaf11	UTSW	15	96,313,808 (GRCm39)	missense	probably damaging	1.00
R9689:Scaf11	UTSW	15	96,316,195 (GRCm39)	missense	probably damaging	1.00
R9746:Scaf11	UTSW	15	96,318,298 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02