Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Scaf11'

104318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scaf11

Ensembl Gene

ENSMUSG00000033228

Gene Name

SR-related CTD-associated factor 11

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

96411699-96460843 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 96423623 bp (GRCm38)

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

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228260

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156		probably benign	Het
Arid2	A	C	15: 96,361,572		probably null	Het
Cadm1	C	A	9: 47,850,324	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198	F33L	probably benign	Het
Edrf1	A	G	7: 133,643,730	H199R	probably benign	Het
F5	T	A	1: 164,194,052	N1365K	probably benign	Het
Fam205c	T	A	4: 42,874,163	M2L	probably benign	Het
Gipc2	T	G	3: 152,137,608	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,976,493	D586G	possibly damaging	Het
Ninl	A	T	2: 150,939,947	L1206Q	probably damaging	Het
Olfr1446	T	A	19: 12,890,467	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464	E181G	probably benign	Het
Skint7	T	A	4: 111,980,457		probably benign	Het
Sox14	T	C	9: 99,875,663	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969		probably benign	Het
Ttc37	C	T	13: 76,128,733	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419		probably benign	Het

Other mutations in Scaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Scaf11	APN	15	96418580	missense	possibly damaging	0.94
IGL01386:Scaf11	APN	15	96420480	missense	probably damaging	1.00
IGL01449:Scaf11	APN	15	96419126	missense	probably benign	0.04
IGL01547:Scaf11	APN	15	96418429	missense	probably benign	0.14
IGL01780:Scaf11	APN	15	96420844	missense	possibly damaging	0.94
IGL02311:Scaf11	APN	15	96418756	missense	probably benign	0.01
IGL02740:Scaf11	APN	15	96419002	missense	probably benign	0.01
IGL02805:Scaf11	APN	15	96420182	missense	possibly damaging	0.69
IGL03383:Scaf11	APN	15	96420183	splice site	probably null
R0173:Scaf11	UTSW	15	96420194	missense	probably benign	0.00
R0379:Scaf11	UTSW	15	96431816	missense	probably damaging	1.00
R0508:Scaf11	UTSW	15	96420487	missense	probably damaging	1.00
R0648:Scaf11	UTSW	15	96418458	missense	possibly damaging	0.72
R0653:Scaf11	UTSW	15	96418641	nonsense	probably null
R0727:Scaf11	UTSW	15	96419443	missense	probably damaging	1.00
R0829:Scaf11	UTSW	15	96418689	missense	probably damaging	1.00
R0839:Scaf11	UTSW	15	96423553	missense	probably damaging	1.00
R0843:Scaf11	UTSW	15	96431825	missense	probably damaging	1.00
R0882:Scaf11	UTSW	15	96418295	missense	possibly damaging	0.75
R1994:Scaf11	UTSW	15	96418840	nonsense	probably null
R2092:Scaf11	UTSW	15	96415827	missense	probably damaging	0.98
R2125:Scaf11	UTSW	15	96419315	missense	possibly damaging	0.69
R2200:Scaf11	UTSW	15	96420523	missense	probably damaging	1.00
R3409:Scaf11	UTSW	15	96414864	missense	probably damaging	1.00
R3751:Scaf11	UTSW	15	96418536	missense	probably damaging	0.99
R4308:Scaf11	UTSW	15	96446515	missense	probably benign	0.00
R4424:Scaf11	UTSW	15	96418428	missense	possibly damaging	0.78
R4519:Scaf11	UTSW	15	96424838	missense	probably damaging	1.00
R4646:Scaf11	UTSW	15	96420100	splice site	probably null
R4647:Scaf11	UTSW	15	96420100	splice site	probably null
R4724:Scaf11	UTSW	15	96414848	missense	probably benign	0.40
R4748:Scaf11	UTSW	15	96420421	nonsense	probably null
R4926:Scaf11	UTSW	15	96418242	missense	possibly damaging	0.87
R4978:Scaf11	UTSW	15	96415917	missense	probably damaging	1.00
R5105:Scaf11	UTSW	15	96420432	missense	probably damaging	1.00
R5120:Scaf11	UTSW	15	96419542	missense	probably benign	0.26
R5277:Scaf11	UTSW	15	96419226	missense	probably damaging	1.00
R5377:Scaf11	UTSW	15	96417120	missense	possibly damaging	0.55
R5394:Scaf11	UTSW	15	96419458	missense	probably benign	0.28
R5481:Scaf11	UTSW	15	96420617	missense	probably damaging	1.00
R5831:Scaf11	UTSW	15	96417081	missense	probably benign	0.14
R5941:Scaf11	UTSW	15	96420308	missense	probably damaging	0.99
R6123:Scaf11	UTSW	15	96420454	missense	probably benign	0.29
R6166:Scaf11	UTSW	15	96424662	missense	probably damaging	1.00
R6504:Scaf11	UTSW	15	96419460	splice site	probably null
R6863:Scaf11	UTSW	15	96419419	missense	probably damaging	1.00
R7135:Scaf11	UTSW	15	96420328	missense	possibly damaging	0.82
R7193:Scaf11	UTSW	15	96419161	missense	probably damaging	1.00
R7384:Scaf11	UTSW	15	96420387	missense	possibly damaging	0.92
R7790:Scaf11	UTSW	15	96419061	missense	possibly damaging	0.60
R8056:Scaf11	UTSW	15	96414817	nonsense	probably null
R8104:Scaf11	UTSW	15	96418602	missense	probably benign	0.34
R8129:Scaf11	UTSW	15	96419469	missense	probably damaging	1.00
R8134:Scaf11	UTSW	15	96420711	missense	probably damaging	1.00
R8523:Scaf11	UTSW	15	96419107	missense	probably damaging	1.00
R8743:Scaf11	UTSW	15	96415788	missense	probably benign	0.16
R8955:Scaf11	UTSW	15	96420490	missense	probably damaging	0.98
R8987:Scaf11	UTSW	15	96418676	nonsense	probably null
R9118:Scaf11	UTSW	15	96422005	missense	probably benign
R9127:Scaf11	UTSW	15	96414883	missense	probably benign	0.01
R9534:Scaf11	UTSW	15	96420328	missense	possibly damaging	0.84
R9628:Scaf11	UTSW	15	96419517	missense	probably benign	0.15
R9630:Scaf11	UTSW	15	96418168	missense	probably damaging	1.00
R9688:Scaf11	UTSW	15	96415927	missense	probably damaging	1.00
R9689:Scaf11	UTSW	15	96418314	missense	probably damaging	1.00
R9746:Scaf11	UTSW	15	96420417	missense	probably damaging	1.00

Posted On

2014-01-21