Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Scaf11'

357338

Institutional Source

Beutler Lab

Gene Symbol

Scaf11

Ensembl Gene

ENSMUSG00000033228

Gene Name

SR-related CTD-associated factor 11

Synonyms

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

MMRRC Submission

042030-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96411699-96460843 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 96420421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 421 (Q421*)

Ref Sequence

ENSEMBL: ENSMUSP00000154321 (fasta)

Gene Model

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

AlphaFold

E9PZM7

Predicted Effect

probably null
Transcript: ENSMUST00000047835
AA Change: Q421*

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: Q421*

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 null
Transcript: ENSMUST00000227069
AA Change: Q421*

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228260

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656	E54D	possibly damaging	Het
4933415F23Rik	T	C	1: 23,101,870	E121G	probably damaging	Het
Abcb6	C	A	1: 75,177,358	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980	I480M	possibly damaging	Het
Ccnh	T	A	13: 85,189,639	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839		probably null	Het
Chia1	A	T	3: 106,122,449	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737		probably null	Het
D630045J12Rik	T	C	6: 38,196,841	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,555,333	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255	V275I	probably benign	Het
Olfr273	A	G	4: 52,856,076	S146P	possibly damaging	Het
Olfr738	T	G	14: 50,413,876	L111V	possibly damaging	Het
Otud7a	T	C	7: 63,735,915	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723	T69P	probably benign	Het
Ptpn12	A	T	5: 21,005,385	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405	T121A	possibly damaging	Het
Shcbp1	G	A	8: 4,744,512	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876	C163Y	probably benign	Het
Slc27a1	A	G	8: 71,580,675	D287G	probably damaging	Het
Slc27a1	C	T	8: 71,580,809	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361		probably null	Het
Stac2	T	C	11: 98,041,372	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191	Q957*	probably null	Het
Them7	A	T	2: 105,378,646	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562	R296*	probably null	Het
Trim80	C	A	11: 115,448,138	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048	A516S	probably damaging	Het
Wisp1	C	A	15: 66,906,640	Y103*	probably null	Het
Zc3h6	G	A	2: 129,002,240	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556	I412T	probably benign	Het

Other mutations in Scaf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Scaf11	APN	15	96418580	missense	possibly damaging	0.94
IGL01386:Scaf11	APN	15	96420480	missense	probably damaging	1.00
IGL01449:Scaf11	APN	15	96419126	missense	probably benign	0.04
IGL01547:Scaf11	APN	15	96418429	missense	probably benign	0.14
IGL01697:Scaf11	APN	15	96423623	splice site	probably benign
IGL01780:Scaf11	APN	15	96420844	missense	possibly damaging	0.94
IGL02311:Scaf11	APN	15	96418756	missense	probably benign	0.01
IGL02740:Scaf11	APN	15	96419002	missense	probably benign	0.01
IGL02805:Scaf11	APN	15	96420182	missense	possibly damaging	0.69
IGL03383:Scaf11	APN	15	96420183	splice site	probably null
R0173:Scaf11	UTSW	15	96420194	missense	probably benign	0.00
R0379:Scaf11	UTSW	15	96431816	missense	probably damaging	1.00
R0508:Scaf11	UTSW	15	96420487	missense	probably damaging	1.00
R0648:Scaf11	UTSW	15	96418458	missense	possibly damaging	0.72
R0653:Scaf11	UTSW	15	96418641	nonsense	probably null
R0727:Scaf11	UTSW	15	96419443	missense	probably damaging	1.00
R0829:Scaf11	UTSW	15	96418689	missense	probably damaging	1.00
R0839:Scaf11	UTSW	15	96423553	missense	probably damaging	1.00
R0843:Scaf11	UTSW	15	96431825	missense	probably damaging	1.00
R0882:Scaf11	UTSW	15	96418295	missense	possibly damaging	0.75
R1994:Scaf11	UTSW	15	96418840	nonsense	probably null
R2092:Scaf11	UTSW	15	96415827	missense	probably damaging	0.98
R2125:Scaf11	UTSW	15	96419315	missense	possibly damaging	0.69
R2200:Scaf11	UTSW	15	96420523	missense	probably damaging	1.00
R3409:Scaf11	UTSW	15	96414864	missense	probably damaging	1.00
R3751:Scaf11	UTSW	15	96418536	missense	probably damaging	0.99
R4308:Scaf11	UTSW	15	96446515	missense	probably benign	0.00
R4424:Scaf11	UTSW	15	96418428	missense	possibly damaging	0.78
R4519:Scaf11	UTSW	15	96424838	missense	probably damaging	1.00
R4646:Scaf11	UTSW	15	96420100	splice site	probably null
R4647:Scaf11	UTSW	15	96420100	splice site	probably null
R4724:Scaf11	UTSW	15	96414848	missense	probably benign	0.40
R4926:Scaf11	UTSW	15	96418242	missense	possibly damaging	0.87
R4978:Scaf11	UTSW	15	96415917	missense	probably damaging	1.00
R5105:Scaf11	UTSW	15	96420432	missense	probably damaging	1.00
R5120:Scaf11	UTSW	15	96419542	missense	probably benign	0.26
R5277:Scaf11	UTSW	15	96419226	missense	probably damaging	1.00
R5377:Scaf11	UTSW	15	96417120	missense	possibly damaging	0.55
R5394:Scaf11	UTSW	15	96419458	missense	probably benign	0.28
R5481:Scaf11	UTSW	15	96420617	missense	probably damaging	1.00
R5831:Scaf11	UTSW	15	96417081	missense	probably benign	0.14
R5941:Scaf11	UTSW	15	96420308	missense	probably damaging	0.99
R6123:Scaf11	UTSW	15	96420454	missense	probably benign	0.29
R6166:Scaf11	UTSW	15	96424662	missense	probably damaging	1.00
R6504:Scaf11	UTSW	15	96419460	splice site	probably null
R6863:Scaf11	UTSW	15	96419419	missense	probably damaging	1.00
R7135:Scaf11	UTSW	15	96420328	missense	possibly damaging	0.82
R7193:Scaf11	UTSW	15	96419161	missense	probably damaging	1.00
R7384:Scaf11	UTSW	15	96420387	missense	possibly damaging	0.92
R7790:Scaf11	UTSW	15	96419061	missense	possibly damaging	0.60
R8056:Scaf11	UTSW	15	96414817	nonsense	probably null
R8104:Scaf11	UTSW	15	96418602	missense	probably benign	0.34
R8129:Scaf11	UTSW	15	96419469	missense	probably damaging	1.00
R8134:Scaf11	UTSW	15	96420711	missense	probably damaging	1.00
R8523:Scaf11	UTSW	15	96419107	missense	probably damaging	1.00
R8743:Scaf11	UTSW	15	96415788	missense	probably benign	0.16
R8955:Scaf11	UTSW	15	96420490	missense	probably damaging	0.98
R8987:Scaf11	UTSW	15	96418676	nonsense	probably null
R9118:Scaf11	UTSW	15	96422005	missense	probably benign
R9127:Scaf11	UTSW	15	96414883	missense	probably benign	0.01
R9534:Scaf11	UTSW	15	96420328	missense	possibly damaging	0.84
R9628:Scaf11	UTSW	15	96419517	missense	probably benign	0.15
R9630:Scaf11	UTSW	15	96418168	missense	probably damaging	1.00
R9688:Scaf11	UTSW	15	96415927	missense	probably damaging	1.00
R9689:Scaf11	UTSW	15	96418314	missense	probably damaging	1.00
R9746:Scaf11	UTSW	15	96420417	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTCCTGAGTGCAAGATTC -3'
(R):5'- TTCTGAGTGTGATGCCCCAG -3'

Sequencing Primer
(F):5'- CTGAGTGCAAGATTCAGAATTTAAAC -3'
(R):5'- TGCCCCAGGGAATAGTAATTC -3'

Posted On

2015-11-11