Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:U2af1l4'

585635

Institutional Source

Beutler Lab

Gene Symbol

U2af1l4

Ensembl Gene

ENSMUSG00000078765

Gene Name

U2 small nuclear RNA auxiliary factor 1-like 4

Synonyms

U2af26, auxiliary factor 26

MMRRC Submission

045657-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.626) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30262765-30264789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30262982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 24 (I24F)

Ref Sequence

ENSEMBL: ENSMUSP00000039406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043273] [ENSMUST00000043850] [ENSMUST00000043898] [ENSMUST00000043975] [ENSMUST00000108161] [ENSMUST00000108164] [ENSMUST00000156241] [ENSMUST00000163276] [ENSMUST00000163330] [ENSMUST00000163464] [ENSMUST00000163482] [ENSMUST00000163654] [ENSMUST00000163848] [ENSMUST00000164365] [ENSMUST00000166257] [ENSMUST00000166510] [ENSMUST00000166960] [ENSMUST00000167042] [ENSMUST00000167202] [ENSMUST00000167361] [ENSMUST00000167501] [ENSMUST00000168229] [ENSMUST00000168333] [ENSMUST00000168555] [ENSMUST00000168931] [ENSMUST00000171850] [ENSMUST00000171912] [ENSMUST00000172251] [ENSMUST00000207031] [ENSMUST00000207747] [ENSMUST00000207797] [ENSMUST00000208628]

AlphaFold

Q8BGJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000043273
AA Change: I24F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765
AA Change: I24F

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: ENSMUST00000043975

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	84	240	5e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108161
AA Change: I24F

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

SMART Domains

Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378
AA Change: I24F

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: ENSMUST00000108164

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	58	229	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156241

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	80	202	7.5e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163276
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
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

probably damaging
Transcript: ENSMUST00000163464
AA Change: I24F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765
AA Change: I24F

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

probably benign
Transcript: ENSMUST00000163482

SMART Domains

Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163654
AA Change: I24F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765
AA Change: I24F

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

possibly damaging
Transcript: ENSMUST00000163848
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164365
AA Change: K2N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765
AA Change: I10F

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

probably damaging
Transcript: ENSMUST00000166257
AA Change: I24F

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

SMART Domains

Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765
AA Change: I24F

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

probably damaging
Transcript: ENSMUST00000166510
AA Change: I24F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765
AA Change: I24F

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

probably benign
Transcript: ENSMUST00000166960

Predicted Effect

probably damaging
Transcript: ENSMUST00000167042
AA Change: I24F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378
AA Change: I24F

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 damaging
Transcript: ENSMUST00000167202
AA Change: I2F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000167361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167501
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168229
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000168333
AA Change: I24F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765
AA Change: I24F

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

possibly damaging
Transcript: ENSMUST00000168555
AA Change: K15N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168931
AA Change: I2F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765
AA Change: I2F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171850
AA Change: I24F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765
AA Change: I24F

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

probably damaging
Transcript: ENSMUST00000171912
AA Change: I24F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378
AA Change: I24F

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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
9330182O14Rik	A	T	15: 40,008,344 (GRCm39)	T73S	unknown	Het
Acvrl1	A	G	15: 101,033,636 (GRCm39)	Q106R	probably benign	Het
Adgb	A	T	10: 10,306,996 (GRCm39)	D329E	probably benign	Het
Ankrd12	A	T	17: 66,289,900 (GRCm39)	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Apol6	A	C	15: 76,934,898 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,629,506 (GRCm39)	V618M	probably damaging	Het
Asic3	A	G	5: 24,619,046 (GRCm39)	T113A	probably benign	Het
BC034090	T	A	1: 155,093,151 (GRCm39)	H769L	probably benign	Het
Bcl11a	G	T	11: 24,035,458 (GRCm39)	E65*	probably null	Het
Birc6	G	T	17: 74,905,077 (GRCm39)	R1290L	possibly damaging	Het
C6	A	G	15: 4,819,063 (GRCm39)	E465G	probably benign	Het
Cav2	T	A	6: 17,282,078 (GRCm39)	I112N	probably damaging	Het
Cep131	G	A	11: 119,957,539 (GRCm39)	A848V	probably damaging	Het
Col8a1	T	A	16: 57,447,555 (GRCm39)	I652F	unknown	Het
Cul4a	A	G	8: 13,173,493 (GRCm39)	N180S	probably benign	Het
Dhx38	A	G	8: 110,287,327 (GRCm39)	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,323,271 (GRCm39)	V1197A	possibly damaging	Het
Dynlt1f	A	G	17: 6,923,181 (GRCm39)	S7P	not run	Het
Eef1ece2	T	A	16: 20,461,237 (GRCm39)	Y641*	probably null	Het
Epha1	T	A	6: 42,342,356 (GRCm39)	T331S	possibly damaging	Het
Hus1b	A	G	13: 31,130,847 (GRCm39)	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,268,978 (GRCm39)	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,141,046 (GRCm39)	L651P	probably damaging	Het
Lgr5	T	C	10: 115,298,661 (GRCm39)	Y361C	probably damaging	Het
Map1s	T	C	8: 71,366,142 (GRCm39)	V349A	probably benign	Het
Map3k6	A	G	4: 132,977,388 (GRCm39)	R912G	probably benign	Het
Mtarc2	A	T	1: 184,573,622 (GRCm39)	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,900,433 (GRCm39)	H459Q	probably benign	Het
Nlrp1a	T	C	11: 70,999,869 (GRCm39)	M817V	probably benign	Het
Npsr1	A	G	9: 24,225,026 (GRCm39)	R345G	probably benign	Het
Nuak2	G	A	1: 132,244,019 (GRCm39)	A18T	possibly damaging	Het
Or4d6	T	C	19: 12,086,385 (GRCm39)	D175G	possibly damaging	Het
Or5ak23	A	G	2: 85,244,479 (GRCm39)	V248A	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp4r3b	T	C	11: 29,138,540 (GRCm39)	F296S	possibly damaging	Het
Pramel51	A	T	12: 88,143,085 (GRCm39)	Y373N	probably benign	Het
Pycr2	T	C	1: 180,732,083 (GRCm39)	F19L	probably benign	Het
Robo2	T	A	16: 73,832,003 (GRCm39)	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194 (GRCm39)	N132K	probably damaging	Het
Rp1	A	T	1: 4,355,063 (GRCm39)	L379Q	unknown	Het
Sema6d	A	G	2: 124,499,892 (GRCm39)	I323V	possibly damaging	Het
Slc12a4	A	G	8: 106,672,479 (GRCm39)	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,272,584 (GRCm39)	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,547,276 (GRCm39)	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,029,695 (GRCm39)	D94E	probably benign	Het
Sorcs2	A	G	5: 36,183,220 (GRCm39)	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,090,947 (GRCm39)	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,821,553 (GRCm39)	V123A	probably benign	Het
Stradb	A	G	1: 59,030,310 (GRCm39)	Y188C	unknown	Het
Styxl2	T	C	1: 165,935,604 (GRCm39)	D198G	probably damaging	Het
Sult2a2	T	C	7: 13,513,430 (GRCm39)	F186L	probably benign	Het
Syne2	A	G	12: 75,974,164 (GRCm39)	T1120A	probably benign	Het
Taok1	A	T	11: 77,446,440 (GRCm39)	S430T	probably benign	Het
Tmem62	A	T	2: 120,837,411 (GRCm39)	I573L	probably benign	Het
Trav9-1	T	C	14: 53,725,581 (GRCm39)	S7P	probably benign	Het
Usp33	T	A	3: 152,097,302 (GRCm39)	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,601,544 (GRCm39)	I698S	probably damaging	Het
Zfp352	C	T	4: 90,111,896 (GRCm39)	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,493,969 (GRCm39)	E358V	probably damaging	Het

Other mutations in U2af1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4738:U2af1l4	UTSW	7	30,262,773 (GRCm39)	intron	probably benign
R5262:U2af1l4	UTSW	7	30,263,638 (GRCm39)	missense	probably benign	0.05
R6164:U2af1l4	UTSW	7	30,264,007 (GRCm39)	missense	probably damaging	0.99
R7164:U2af1l4	UTSW	7	30,264,544 (GRCm39)	missense	probably benign	0.08
R7429:U2af1l4	UTSW	7	30,262,815 (GRCm39)	missense	probably benign	0.25
Z1176:U2af1l4	UTSW	7	30,263,706 (GRCm39)	missense	probably benign	0.00
Z1177:U2af1l4	UTSW	7	30,264,565 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTTCGATATTCGGGACTGAG -3'
(R):5'- AGGGCTGCATACAGTGTGAG -3'

Sequencing Primer
(F):5'- CTTCGATATTCGGGACTGAGAAGGAC -3'
(R):5'- TCTGTCTACCCAGAGGACCAG -3'

Posted On

2019-10-17