Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01547:Scaf11'

90363

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 #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96316310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1085 (T1085A)

Ref Sequence

ENSEMBL: ENSMUSP00000044898 (fasta)

Gene Model

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

AlphaFold

E9PZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000047835
AA Change: T1085A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: T1085A

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: T1085A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000228072
AA Change: T88A

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,182,573 (GRCm39)	G243R	possibly damaging	Het
Afg3l1	T	C	8: 124,228,090 (GRCm39)	V625A	probably benign	Het
Arhgap39	T	C	15: 76,622,015 (GRCm39)		probably benign	Het
Bag1	A	G	4: 40,936,661 (GRCm39)	C332R	probably damaging	Het
Bcas2	T	C	3: 103,079,315 (GRCm39)	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,522,047 (GRCm39)		probably benign	Het
Cdyl	A	G	13: 35,974,145 (GRCm39)	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,747,013 (GRCm39)	I1322V	probably benign	Het
Evc2	C	A	5: 37,550,431 (GRCm39)	A815E	probably benign	Het
Gm6309	C	T	5: 146,105,221 (GRCm39)	D231N	probably benign	Het
Mtfr2	C	T	10: 20,233,345 (GRCm39)	P305S	probably damaging	Het
Or14c44	A	G	7: 86,062,079 (GRCm39)	N170D	possibly damaging	Het
Or51k1	A	T	7: 103,661,867 (GRCm39)	I14N	probably benign	Het
Or7d10	A	T	9: 19,832,197 (GRCm39)	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,400,395 (GRCm39)	H782R	probably benign	Het
Polr2a	A	G	11: 69,635,768 (GRCm39)	S480P	probably damaging	Het
Sema6c	C	T	3: 95,079,709 (GRCm39)	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,824,421 (GRCm39)	T106I	probably damaging	Het
Tgm5	A	G	2: 120,879,683 (GRCm39)		probably benign	Het
Vmn2r23	T	A	6: 123,681,383 (GRCm39)	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,445,525 (GRCm39)	K644N	probably damaging	Het
Zfp608	A	G	18: 55,027,521 (GRCm39)		probably null	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
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

2013-12-03