Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02311:Scaf11'

287798

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 #

IGL02311

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96316637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 976 (S976G)

Ref Sequence

ENSEMBL: ENSMUSP00000154321 (fasta)

Gene Model

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

AlphaFold

E9PZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000047835
AA Change: S976G

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

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: S976G

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: S976G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	A	5: 25,202,705 (GRCm39)		probably benign	Het
Adam21	T	G	12: 81,607,666 (GRCm39)	D32A	probably benign	Het
Asns	A	G	6: 7,676,233 (GRCm39)		probably null	Het
Bin3	A	T	14: 70,361,666 (GRCm39)	M45L	probably benign	Het
Cfap44	A	T	16: 44,225,134 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,227,163 (GRCm39)	T2642A	probably benign	Het
Dbndd2	T	C	2: 164,330,622 (GRCm39)	S92P	possibly damaging	Het
Dclre1b	A	C	3: 103,715,409 (GRCm39)	F30V	probably damaging	Het
Dock6	T	C	9: 21,755,624 (GRCm39)	D200G	probably damaging	Het
Epb41l4b	C	A	4: 57,076,456 (GRCm39)	R335L	probably damaging	Het
Fscn1	T	C	5: 142,957,765 (GRCm39)	V304A	probably benign	Het
Gm7008	G	A	12: 40,273,385 (GRCm39)		probably benign	Het
Gm8237	A	G	14: 5,864,425 (GRCm38)		probably null	Het
Ifih1	T	C	2: 62,440,847 (GRCm39)	T440A	probably damaging	Het
Mepe	C	T	5: 104,485,571 (GRCm39)	S237F	probably damaging	Het
Nr4a2	T	C	2: 57,001,743 (GRCm39)	I174V	probably benign	Het
Or2ag2	A	G	7: 106,485,101 (GRCm39)	Y308H	probably benign	Het
Or8c11	C	T	9: 38,289,194 (GRCm39)	Q6*	probably null	Het
Orc1	G	T	4: 108,457,171 (GRCm39)	V404L	probably benign	Het
Pcsk5	G	T	19: 17,410,784 (GRCm39)	Y1869*	probably null	Het
Phf21b	A	G	15: 84,678,095 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,484,246 (GRCm39)	T631A	probably benign	Het
Plxnb1	A	G	9: 108,930,190 (GRCm39)	N349D	probably benign	Het
Scn8a	G	T	15: 100,911,164 (GRCm39)	M861I	probably damaging	Het
Stau1	T	C	2: 166,792,239 (GRCm39)	N433S	probably damaging	Het
Synrg	A	G	11: 83,910,630 (GRCm39)	K854R	probably benign	Het
Tbata	T	A	10: 61,015,234 (GRCm39)	C150*	probably null	Het
Tcn2	G	A	11: 3,867,692 (GRCm39)	P417S	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Tpr	G	T	1: 150,274,404 (GRCm39)	D104Y	probably damaging	Het
Ubash3b	T	C	9: 40,958,333 (GRCm39)	T16A	probably benign	Het
Uso1	T	A	5: 92,335,635 (GRCm39)	S548T	probably benign	Het
Vps13b	T	A	15: 35,709,660 (GRCm39)	V1869E	probably benign	Het
Vps18	T	C	2: 119,120,732 (GRCm39)	C64R	probably benign	Het
Zic2	C	A	14: 122,713,606 (GRCm39)	N173K	probably damaging	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
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
IGL03383:Scaf11	APN	15	96,318,064 (GRCm39)	splice site	probably null
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

2015-04-16