Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01386:Scaf11'

79058

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 #

IGL01386

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96318361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 401 (D401G)

Ref Sequence

ENSEMBL: ENSMUSP00000044898 (fasta)

Gene Model

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

AlphaFold

E9PZM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047835
AA Change: D401G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: D401G

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 damaging
Transcript: ENSMUST00000227069
AA Change: D401G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,240,446 (GRCm39)	R214G	probably benign	Het
Cacna1e	T	A	1: 154,348,123 (GRCm39)	K817N	probably benign	Het
Cyp3a16	A	G	5: 145,377,244 (GRCm39)	F448L	probably damaging	Het
Dpp6	T	A	5: 27,869,760 (GRCm39)		probably null	Het
Eif2ak3	C	T	6: 70,869,710 (GRCm39)	T799M	probably damaging	Het
Erbb4	A	T	1: 68,383,090 (GRCm39)	S302R	probably damaging	Het
Fam217a	T	A	13: 35,099,632 (GRCm39)		probably benign	Het
Flt4	C	A	11: 49,528,162 (GRCm39)	A995D	probably benign	Het
Fpr-rs7	G	A	17: 20,334,454 (GRCm39)	S12L	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Hpcal4	T	C	4: 123,083,035 (GRCm39)		probably null	Het
Intu	A	T	3: 40,647,017 (GRCm39)	D630V	probably damaging	Het
Jak3	A	G	8: 72,136,933 (GRCm39)	D703G	probably damaging	Het
Lama4	A	G	10: 38,887,060 (GRCm39)	I122V	probably benign	Het
Mrpl11	A	C	19: 5,013,409 (GRCm39)	K92T	probably null	Het
Mtarc2	A	G	1: 184,551,413 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,791,610 (GRCm39)		probably null	Het
Or52ab4	A	T	7: 102,987,974 (GRCm39)	K238*	probably null	Het
Parpbp	A	C	10: 87,975,848 (GRCm39)	Y88*	probably null	Het
Plod2	G	A	9: 92,488,655 (GRCm39)	R627Q	probably damaging	Het
Rapsn	G	T	2: 90,867,144 (GRCm39)	A149S	probably damaging	Het
Ripk3	T	G	14: 56,023,484 (GRCm39)	Q109P	probably damaging	Het
Serpine2	G	A	1: 79,779,268 (GRCm39)	T150I	probably damaging	Het
Sh2d6	T	A	6: 72,495,945 (GRCm39)	T98S	probably benign	Het
Slc28a1	G	T	7: 80,814,427 (GRCm39)	A513S	probably benign	Het
Tanc2	T	C	11: 105,777,207 (GRCm39)	F795S	probably damaging	Het
Tcim	T	A	8: 24,928,705 (GRCm39)	I70F	probably benign	Het
Thbd	G	A	2: 148,249,602 (GRCm39)	Q89*	probably null	Het
Tmem115	C	T	9: 107,411,859 (GRCm39)	T61I	probably damaging	Het
Tsc2	A	T	17: 24,832,259 (GRCm39)	V650E	probably damaging	Het
Tubgcp6	A	T	15: 88,992,199 (GRCm39)	Y595*	probably null	Het
Uroc1	C	T	6: 90,323,747 (GRCm39)	A398V	probably damaging	Het
Vmn1r31	T	C	6: 58,449,587 (GRCm39)	T93A	probably benign	Het
Vmn2r113	A	G	17: 23,175,024 (GRCm39)	E545G	possibly damaging	Het
Vps13a	A	G	19: 16,678,516 (GRCm39)	V1155A	possibly damaging	Het
Zfp667	A	G	7: 6,307,869 (GRCm39)	H179R	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
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

2013-11-05