Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:U2af1l4'

557800

Institutional Source

Beutler Lab

Gene Symbol

U2af1l4

Ensembl Gene

ENSMUSG00000078765

Gene Name

U2 small nuclear RNA auxiliary factor 1-like 4

Synonyms

auxiliary factor 26, U2af26

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30563301-30565365 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30565119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 103 (S103P)

Ref Sequence

ENSEMBL: ENSMUSP00000146344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006470] [ENSMUST00000043273] [ENSMUST00000043850] [ENSMUST00000043898] [ENSMUST00000108154] [ENSMUST00000108161] [ENSMUST00000163276] [ENSMUST00000163330] [ENSMUST00000163464] [ENSMUST00000163482] [ENSMUST00000163654] [ENSMUST00000167202] [ENSMUST00000163848] [ENSMUST00000164365] [ENSMUST00000166257] [ENSMUST00000166510] [ENSMUST00000166960] [ENSMUST00000167042] [ENSMUST00000167361] [ENSMUST00000167501] [ENSMUST00000168229] [ENSMUST00000168333] [ENSMUST00000168555] [ENSMUST00000168931] [ENSMUST00000171850] [ENSMUST00000171912] [ENSMUST00000172251] [ENSMUST00000207031] [ENSMUST00000207747] [ENSMUST00000207797] [ENSMUST00000208628]

AlphaFold

Q8BGJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000006470

SMART Domains

Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	7.2e-15	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1881	1899	N/A	INTRINSIC
low complexity region	1912	1942	N/A	INTRINSIC
low complexity region	1961	1978	N/A	INTRINSIC
low complexity region	1991	2003	N/A	INTRINSIC
low complexity region	2013	2026	N/A	INTRINSIC
low complexity region	2048	2061	N/A	INTRINSIC
low complexity region	2087	2105	N/A	INTRINSIC
low complexity region	2127	2138	N/A	INTRINSIC
low complexity region	2215	2235	N/A	INTRINSIC
low complexity region	2239	2270	N/A	INTRINSIC
low complexity region	2396	2406	N/A	INTRINSIC
FYRC	2419	2504	4.83e-36	SMART
SET	2581	2703	1.67e-42	SMART
PostSET	2705	2721	4.65e-4	SMART

Predicted Effect

silent
Transcript: ENSMUST00000043273

SMART Domains

Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043850

SMART Domains

Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	166	188	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043898

SMART Domains

Protein: ENSMUSP00000044682
Gene: ENSMUSG00000036835

Domain	Start	End	E-Value	Type
Pfam:PEN-2	7	99	2.9e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108154

SMART Domains

Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	1e-14	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1872	1890	N/A	INTRINSIC
low complexity region	1903	1933	N/A	INTRINSIC
low complexity region	1952	1969	N/A	INTRINSIC
low complexity region	1982	1994	N/A	INTRINSIC
low complexity region	2004	2017	N/A	INTRINSIC
low complexity region	2039	2052	N/A	INTRINSIC
low complexity region	2078	2096	N/A	INTRINSIC
low complexity region	2118	2129	N/A	INTRINSIC
low complexity region	2206	2226	N/A	INTRINSIC
low complexity region	2230	2261	N/A	INTRINSIC
low complexity region	2383	2398	N/A	INTRINSIC
FYRC	2411	2496	4.83e-36	SMART
SET	2573	2695	1.67e-42	SMART
PostSET	2697	2713	4.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108161

SMART Domains

Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	8.8e-10	PFAM
SCOP:d1jmta_	43	115	2e-17	SMART
PDB:1JMT\|A	43	116	3e-40	PDB
Blast:RRM	45	116	2e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000131002

SMART Domains

Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	30	69	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
Pfam:zf-CXXC	255	302	5.2e-15	PFAM
low complexity region	331	353	N/A	INTRINSIC
low complexity region	395	407	N/A	INTRINSIC
PHD	501	548	1.25e-5	SMART
PHD	549	599	5.4e-10	SMART
PHD	635	692	1.27e-6	SMART
low complexity region	707	719	N/A	INTRINSIC
PHD	938	984	3.82e-1	SMART
FYRN	1037	1080	3.25e-19	SMART
low complexity region	1173	1191	N/A	INTRINSIC
low complexity region	1204	1234	N/A	INTRINSIC
low complexity region	1253	1270	N/A	INTRINSIC
low complexity region	1283	1295	N/A	INTRINSIC
low complexity region	1305	1318	N/A	INTRINSIC
low complexity region	1340	1353	N/A	INTRINSIC
low complexity region	1379	1397	N/A	INTRINSIC
low complexity region	1419	1430	N/A	INTRINSIC
low complexity region	1507	1527	N/A	INTRINSIC
low complexity region	1531	1562	N/A	INTRINSIC
low complexity region	1684	1699	N/A	INTRINSIC
FYRC	1712	1797	4.83e-36	SMART
SET	1874	1996	1.67e-42	SMART
PostSET	1998	2014	4.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163276

Predicted Effect

silent
Transcript: ENSMUST00000163330

SMART Domains

Protein: ENSMUSP00000129385
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
RRM	39	116	5.99e-4	SMART
Pfam:zf-CCCH	122	148	4.9e-8	PFAM
low complexity region	160	192	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000163464

SMART Domains

Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	171	3.95e1	SMART
low complexity region	183	215	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000163482

SMART Domains

Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
low complexity region	34	54	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000163654

SMART Domains

Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	1.3e-9	PFAM
RRM	66	143	5.99e-4	SMART
low complexity region	167	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167202
AA Change: S103P

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000163848

Predicted Effect

probably benign
Transcript: ENSMUST00000164365

Predicted Effect

probably benign
Transcript: ENSMUST00000165722

SMART Domains

Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	1	26	4.7e-10	PFAM
PDB:1JMT\|A	30	51	2e-6	PDB
SCOP:d1jmta_	30	51	5e-3	SMART
Blast:RRM	32	53	7e-8	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000166257

SMART Domains

Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	33	104	2.35e-2	SMART
ZnF_C3H1	110	136	2.49e-1	SMART
low complexity region	148	180	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000166510

SMART Domains

Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	45	133	2.51e-6	SMART
ZnF_C3H1	139	165	2.49e-1	SMART
low complexity region	177	209	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000166960

Predicted Effect

silent
Transcript: ENSMUST00000167042

SMART Domains

Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000167361

Predicted Effect

probably benign
Transcript: ENSMUST00000167501

Predicted Effect

probably benign
Transcript: ENSMUST00000168229

Predicted Effect

probably benign
Transcript: ENSMUST00000168333

SMART Domains

Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
Pfam:zf-CCCH	13	39	4.8e-10	PFAM
PDB:1JMT\|A	43	94	5e-21	PDB
SCOP:d1jmta_	43	94	2e-9	SMART
Blast:RRM	45	94	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168555

Predicted Effect

probably benign
Transcript: ENSMUST00000168931

SMART Domains

Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
RRM	44	119	4.14e-2	SMART

Predicted Effect

silent
Transcript: ENSMUST00000171850

SMART Domains

Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
PDB:1JMT\|A	43	113	1e-16	PDB
SCOP:d1jmta_	43	113	1e-9	SMART
Blast:RRM	45	110	3e-17	BLAST
ZnF_C3H1	116	142	2.49e-1	SMART
low complexity region	154	186	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000171912

SMART Domains

Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378

Domain	Start	End	E-Value	Type
ZnF_C3H1	13	39	4.79e-3	SMART
RRM	66	143	5.99e-4	SMART
ZnF_C3H1	149	175	2.49e-1	SMART
low complexity region	187	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172251

SMART Domains

Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
low complexity region	267	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207031

Predicted Effect

probably benign
Transcript: ENSMUST00000207747

Predicted Effect

probably benign
Transcript: ENSMUST00000207797

Predicted Effect

probably benign
Transcript: ENSMUST00000208628

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display abnormal circadian rhythms in response to changing external cues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	Het

Other mutations in U2af1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4738:U2af1l4	UTSW	7	30563348	intron	probably benign
R5262:U2af1l4	UTSW	7	30564213	missense	probably benign	0.05
R6164:U2af1l4	UTSW	7	30564582	missense	probably damaging	0.99
R7429:U2af1l4	UTSW	7	30563390	missense	probably benign	0.25
R7569:U2af1l4	UTSW	7	30563557	missense	probably damaging	0.99
Z1176:U2af1l4	UTSW	7	30564281	missense	probably benign	0.00
Z1177:U2af1l4	UTSW	7	30565140	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGTCCCAAACAGTGTAAACC -3'
(R):5'- CCTTTATTGGAGGAGGGACAGG -3'

Sequencing Primer
(F):5'- GTCCCAAACAGTGTAAACCCCATATC -3'
(R):5'- CGAACAGATTATATTATGAAGCTCCG -3'

Posted On

2019-06-26