Mutagenetix > Incidental Mutation

Incidental Mutation 'R0829:Scaf11'

78444

Institutional Source

Beutler Lab

Gene Symbol

Scaf11

Ensembl Gene

ENSMUSG00000033228

Gene Name

SR-related CTD-associated factor 11

Synonyms

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

MMRRC Submission

039009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96309580-96358695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96316570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 998 (D998G)

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: D998G

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

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: D998G

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: D998G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

unknown
Transcript: ENSMUST00000228072
AA Change: D1G

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Meta Mutation Damage Score

0.0991

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprh	C	A	16: 38,266,150 (GRCm39)	A331S	probably benign	Het
Atp4b	T	G	8: 13,440,098 (GRCm39)	T83P	probably damaging	Het
Ccdc177	T	C	12: 80,806,253 (GRCm39)	E7G	probably damaging	Het
Cercam	G	T	2: 29,761,079 (GRCm39)	R126L	probably damaging	Het
Cpb1	C	T	3: 20,306,107 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,543,238 (GRCm39)	M2311V	probably benign	Het
Dnah9	C	A	11: 65,896,002 (GRCm39)	V2458L	probably benign	Het
Dnajb6	T	C	5: 29,990,020 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,202,301 (GRCm39)	T210A	probably damaging	Het
Gfpt1	T	C	6: 87,030,847 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,460 (GRCm39)	D429N	probably benign	Het
Iqck	T	C	7: 118,499,111 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,764,571 (GRCm39)	I359V	probably benign	Het
Lemd3	T	C	10: 120,814,988 (GRCm39)	T82A	probably benign	Het
Lrrc74b	A	G	16: 17,376,254 (GRCm39)		probably benign	Het
Mitf	A	T	6: 97,980,869 (GRCm39)	I246F	possibly damaging	Het
Msgn1	C	T	12: 11,258,525 (GRCm39)	R142Q	probably damaging	Het
Myh8	C	A	11: 67,174,326 (GRCm39)		probably benign	Het
Nacad	C	A	11: 6,551,158 (GRCm39)	V678L	probably benign	Het
Nomo1	A	G	7: 45,725,596 (GRCm39)		probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or1s2	T	A	19: 13,758,556 (GRCm39)	D191E	probably damaging	Het
Or4c100	A	T	2: 88,356,572 (GRCm39)	Y215F	probably damaging	Het
Or4l15	C	A	14: 50,198,503 (GRCm39)	V9L	probably benign	Het
Or6d13	A	G	6: 116,518,226 (GRCm39)	T271A	probably benign	Het
Pcdh15	T	A	10: 74,338,598 (GRCm39)	V1068E	probably damaging	Het
Plat	A	G	8: 23,262,273 (GRCm39)	Y99C	probably damaging	Het
Potefam1	G	A	2: 111,028,450 (GRCm39)	T42I	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm25	T	C	12: 83,707,150 (GRCm39)		probably benign	Het
Serpinb6a	A	G	13: 34,119,684 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,687,899 (GRCm39)	I507M	probably benign	Het
Srebf2	T	A	15: 82,061,790 (GRCm39)		probably null	Het
Stimate	C	T	14: 30,584,842 (GRCm39)	R56C	probably damaging	Het
Tert	T	C	13: 73,792,504 (GRCm39)	C924R	probably damaging	Het
Usp19	T	C	9: 108,371,000 (GRCm39)	S221P	probably benign	Het
Xkr4	C	T	1: 3,741,469 (GRCm39)	A35T	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTACCCAACTGGGACAGTCAC -3'
(R):5'- ATCTGAGTCAGGGTCCCCAAGAAG -3'

Sequencing Primer
(F):5'- CAACTGGGACAGTCACTTCTATG -3'
(R):5'- agagagagaaagcgatagagaag -3'

Posted On

2013-10-16