Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00476:Scaf11'

4048

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 #

IGL00476

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96316461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1034 (D1034E)

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: D1034E

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: D1034E

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

possibly damaging
Transcript: ENSMUST00000227069
AA Change: D1034E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000228072
AA Change: D37E

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,833,035 (GRCm39)	T47A	possibly damaging	Het
Adgrv1	A	G	13: 81,637,193 (GRCm39)	F3416S	probably damaging	Het
Arhgap42	T	C	9: 9,006,344 (GRCm39)	D684G	probably damaging	Het
Atp13a1	T	C	8: 70,249,547 (GRCm39)	L270P	probably damaging	Het
Baz2b	T	C	2: 59,744,083 (GRCm39)	N1474S	probably benign	Het
Chmp1b2	A	C	X: 106,859,766 (GRCm39)		probably benign	Het
Chrna6	A	G	8: 27,896,560 (GRCm39)	I439T	probably damaging	Het
Cylc2	T	C	4: 51,228,157 (GRCm39)	M76T	probably damaging	Het
Ddx19a	T	C	8: 111,703,102 (GRCm39)	K445R	probably benign	Het
Dennd4a	A	T	9: 64,819,044 (GRCm39)	Y1733F	probably damaging	Het
Dop1b	G	A	16: 93,596,914 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,039,165 (GRCm39)		probably null	Het
Gpc2	G	A	5: 138,272,571 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Ldhd	G	T	8: 112,355,270 (GRCm39)	R238S	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	T	G	14: 61,064,810 (GRCm39)	L388R	probably damaging	Het
Mucl3	G	T	17: 35,948,994 (GRCm39)	H202N	possibly damaging	Het
Naa35	A	G	13: 59,777,869 (GRCm39)	D610G	probably damaging	Het
Nae1	A	T	8: 105,253,013 (GRCm39)	L137Q	possibly damaging	Het
Nt5dc3	T	C	10: 86,669,838 (GRCm39)		probably null	Het
Nyx	T	C	X: 13,353,264 (GRCm39)	F373L	possibly damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Taar7a	A	T	10: 23,868,294 (GRCm39)		probably benign	Het
Tcf23	G	T	5: 31,130,869 (GRCm39)	C169F	probably benign	Het
Trim7	A	T	11: 48,738,905 (GRCm39)	N308I	probably benign	Het
Ubxn8	T	C	8: 34,125,333 (GRCm39)	E89G	probably benign	Het

Other mutations in Scaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20