Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Scaf11'

681968

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96411699-96460843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96420490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 398 (S398P)

Ref Sequence

ENSEMBL: ENSMUSP00000154321 (fasta)

Gene Model

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

AlphaFold

E9PZM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047835
AA Change: S398P

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: S398P

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: S398P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000228072

Predicted Effect

probably benign
Transcript: ENSMUST00000228260

Predicted Effect

probably benign
Transcript: ENSMUST00000228535

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,704,705	V1003I	possibly damaging	Het
Adgra3	T	A	5: 49,961,389	Y939F	probably benign	Het
Adra2b	T	C	2: 127,363,584	V2A	probably benign	Het
Aga	T	A	8: 53,521,129	Y296N	possibly damaging	Het
Apc	A	G	18: 34,268,317	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,199,837	S362R	probably benign	Het
Arhgef7	C	T	8: 11,758,451		probably benign	Het
Bmp5	A	T	9: 75,898,553	M446L	probably damaging	Het
Carmil3	C	T	14: 55,496,077	T350I	probably damaging	Het
Cd44	T	A	2: 102,853,018	T224S	probably damaging	Het
Cep112	A	T	11: 108,752,434	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,142,232	A7T	probably benign	Het
Cldn16	G	A	16: 26,482,520	V193I	probably benign	Het
Clec4a3	G	A	6: 122,966,520	E100K	possibly damaging	Het
Cntln	C	T	4: 85,067,873	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,308,527	I420F	probably benign	Het
Dcbld2	G	A	16: 58,450,762	A301T		Het
Dnah1	A	T	14: 31,285,993	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195	V179A	probably benign	Het
Dusp4	T	A	8: 34,817,308	I259N	probably damaging	Het
Enpp1	T	A	10: 24,669,028	I318F	probably benign	Het
Entpd6	T	C	2: 150,753,085	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,522,003	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,642,562	H32R	probably damaging	Het
Fam135b	C	T	15: 71,462,214	V1044I	possibly damaging	Het
Fat4	A	T	3: 38,983,629	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,338,789		probably null	Het
Flnb	T	G	14: 7,892,874	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,556,970	T787A	probably benign	Het
Gli2	T	A	1: 118,855,457	H106L	probably damaging	Het
Gm10283	T	A	8: 60,501,356		probably null	Het
Gm3336	C	T	8: 70,721,896	R67*	probably null	Het
Gsr	T	G	8: 33,693,908	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,216,754	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,423,563	D347V	probably benign	Het
H2afy2	A	T	10: 61,757,831	I22N	probably damaging	Het
Hspa12a	T	C	19: 58,799,626	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,759,412	E467G	possibly damaging	Het
Inf2	A	G	12: 112,610,564	I991V	unknown	Het
Irx6	T	C	8: 92,678,412	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,473,476	K16*	probably null	Het
Kirrel3	T	C	9: 34,944,442	L86P	probably damaging	Het
Lipo5	A	C	19: 33,473,130	F21V		Het
Lrmp	A	T	6: 145,171,664	M376L	probably benign	Het
Lrrc31	T	A	3: 30,679,118	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159	C149Y	probably damaging	Het
Lrrk1	A	G	7: 66,269,825	M446T	probably benign	Het
Mettl14	C	T	3: 123,374,044	D222N	probably benign	Het
Mfsd4b3	G	A	10: 39,948,076	H63Y	probably benign	Het
Myo16	T	C	8: 10,376,175	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,546,203	N151K	probably benign	Het
Obsl1	T	C	1: 75,503,849	D377G	probably damaging	Het
Olfr1356	G	T	10: 78,847,742	P58T	probably damaging	Het
Olfr1447	T	A	19: 12,901,214	T189S	probably benign	Het
Olfr371	T	A	8: 85,231,284	I263N	probably benign	Het
Olfr508	T	A	7: 108,630,299	C102*	probably null	Het
Pigb	T	C	9: 73,038,701	N63S	probably damaging	Het
Plch2	T	C	4: 154,992,566	E577G	probably benign	Het
Prkab2	T	C	3: 97,666,627	V194A	probably benign	Het
Psd3	T	C	8: 67,963,809	I479V	probably benign	Het
Ralgapb	C	A	2: 158,437,344	P117T	probably benign	Het
Ralgapb	C	G	2: 158,495,469	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,620,495	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 91,280,828	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Rps5	T	C	7: 12,925,513	M77T	possibly damaging	Het
Sdf2	T	A	11: 78,254,937	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Slc12a9	T	C	5: 137,331,008	N128S	probably damaging	Het
Slc25a32	C	A	15: 39,097,551	G246C	probably damaging	Het
Slc38a4	C	T	15: 97,016,781	A64T	probably benign	Het
Slit3	T	C	11: 35,698,380	V1254A	probably damaging	Het
Slx4	T	C	16: 3,990,247	K481R	probably benign	Het
Tcea1	A	G	1: 4,889,509	T136A	probably benign	Het
Thra	A	G	11: 98,753,623	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,596,962	S227N	probably benign	Het
Trim80	C	A	11: 115,440,712	T20K	probably benign	Het
Trmt61a	G	T	12: 111,682,822	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,666,251	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,581	E467K		Het
Vars2	C	A	17: 35,661,649	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,688,025	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,307,299	M1I	probably null	Het
Vmn2r3	G	T	3: 64,261,382	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,400,147	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,890,120	Y605*	probably null	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
R4748:Scaf11	UTSW	15	96420421	nonsense	probably null
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
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'- AGGGTCCTGAGTGCAAGATTC -3'
(R):5'- ATTCTGAGTGTGATGCCCC -3'

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

Posted On

2021-08-31