Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01780:Scaf11'

154165

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 #

IGL01780

Quality Score

Status

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96318725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

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: T280A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: T280A

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: T280A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228260

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228535
AA Change: T218A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Aopep	A	G	13: 63,357,939 (GRCm39)	N648D	probably benign	Het
BC024139	C	A	15: 76,005,343 (GRCm39)	L506F	probably benign	Het
Bltp3a	T	C	17: 28,112,474 (GRCm39)	L1221P	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Eml6	T	C	11: 29,755,175 (GRCm39)	M867V	probably benign	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gmds	A	T	13: 32,409,145 (GRCm39)	Y106*	probably null	Het
Homez	T	C	14: 55,095,355 (GRCm39)	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,667,507 (GRCm39)	T344I	probably benign	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Krt13	A	T	11: 100,010,539 (GRCm39)	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,316,528 (GRCm39)	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mrgpra6	T	C	7: 46,838,497 (GRCm39)	T234A	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or8w1	T	C	2: 87,465,424 (GRCm39)	I222M	possibly damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Patl2	A	C	2: 121,952,327 (GRCm39)	S468R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,575 (GRCm39)	S509P	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Prss1	C	A	6: 41,440,139 (GRCm39)	Q159K	probably damaging	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rasgrp1	A	G	2: 117,115,359 (GRCm39)	L743P	probably benign	Het
Rpusd4	G	A	9: 35,179,720 (GRCm39)	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,313,977 (GRCm39)		probably benign	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Syt16	T	C	12: 74,313,616 (GRCm39)	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tenm2	A	G	11: 35,937,768 (GRCm39)	M1635T	probably benign	Het
Vmn1r195	A	G	13: 22,463,255 (GRCm39)	T242A	probably benign	Het
Zfp423	A	G	8: 88,508,136 (GRCm39)	V736A	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
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

2014-02-04