Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Aff3'

388513

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

Laf4, LAF-4, 3222402O04Rik

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

38177326-38664955 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 38181613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039827] [ENSMUST00000039827] [ENSMUST00000095027] [ENSMUST00000095027]

AlphaFold

P51827

Predicted Effect

probably null
Transcript: ENSMUST00000039827

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	20	170	4.9e-63	PFAM
Pfam:AF-4	160	1226	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000039827

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	20	170	4.9e-63	PFAM
Pfam:AF-4	160	1226	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000095027

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	20	172	1.7e-47	PFAM
Pfam:AF-4	161	1226	3.8e-268	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000095027

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	20	172	1.7e-47	PFAM
Pfam:AF-4	161	1226	3.8e-268	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136641

SMART Domains

Protein: ENSMUSP00000114638
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	1	253	1.8e-118	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het

Other mutations in Aff3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Aff3	APN	1	38535681	missense	probably damaging	1.00
IGL02263:Aff3	APN	1	38535599	missense	probably damaging	1.00
IGL02962:Aff3	APN	1	38535656	missense	probably damaging	1.00
IGL03003:Aff3	APN	1	38209570	missense	probably damaging	1.00
IGL03180:Aff3	APN	1	38535662	missense	probably damaging	1.00
IGL03389:Aff3	APN	1	38210349	missense	possibly damaging	0.62
PIT4377001:Aff3	UTSW	1	38538963	missense	probably damaging	0.99
PIT4544001:Aff3	UTSW	1	38210362	missense	probably benign	0.01
R0004:Aff3	UTSW	1	38269726	missense	possibly damaging	0.46
R0004:Aff3	UTSW	1	38269726	missense	possibly damaging	0.46
R0026:Aff3	UTSW	1	38203893	missense	probably benign	0.00
R0279:Aff3	UTSW	1	38535569	missense	probably damaging	1.00
R0344:Aff3	UTSW	1	38203932	missense	probably benign
R0375:Aff3	UTSW	1	38204940	missense	possibly damaging	0.46
R0605:Aff3	UTSW	1	38209987	missense	probably damaging	1.00
R0613:Aff3	UTSW	1	38209923	missense	probably benign	0.09
R0742:Aff3	UTSW	1	38627108	missense	probably damaging	0.99
R1156:Aff3	UTSW	1	38204910	missense	probably benign
R1255:Aff3	UTSW	1	38204884	splice site	probably null
R1448:Aff3	UTSW	1	38191283	missense	probably damaging	1.00
R1760:Aff3	UTSW	1	38329864	splice site	probably benign
R1780:Aff3	UTSW	1	38535702	missense	probably damaging	1.00
R1855:Aff3	UTSW	1	38210304	missense	probably benign	0.23
R2011:Aff3	UTSW	1	38207915	missense	probably benign	0.01
R2331:Aff3	UTSW	1	38204890	splice site	probably null
R2965:Aff3	UTSW	1	38209710	missense	probably damaging	1.00
R2970:Aff3	UTSW	1	38535022	missense	probably damaging	0.97
R3015:Aff3	UTSW	1	38210568	missense	probably benign	0.00
R3763:Aff3	UTSW	1	38252689	splice site	probably benign
R4174:Aff3	UTSW	1	38207927	missense	probably damaging	0.96
R4436:Aff3	UTSW	1	38209687	missense	possibly damaging	0.75
R4661:Aff3	UTSW	1	38627128	missense	possibly damaging	0.94
R5566:Aff3	UTSW	1	38181424	missense	probably damaging	1.00
R6023:Aff3	UTSW	1	38218370	missense	probably damaging	1.00
R6209:Aff3	UTSW	1	38193589	missense	probably benign	0.28
R6467:Aff3	UTSW	1	38208017	missense	probably benign	0.25
R6748:Aff3	UTSW	1	38535246	missense	probably damaging	1.00
R6862:Aff3	UTSW	1	38406497	missense	possibly damaging	0.87
R6880:Aff3	UTSW	1	38627128	missense	possibly damaging	0.94
R6880:Aff3	UTSW	1	38535162	missense	probably damaging	0.99
R7187:Aff3	UTSW	1	38218397	missense	probably damaging	0.98
R8322:Aff3	UTSW	1	38181661	missense	possibly damaging	0.65
R8329:Aff3	UTSW	1	38205054	missense	probably benign	0.13
R8737:Aff3	UTSW	1	38269729	missense	probably damaging	1.00
R9093:Aff3	UTSW	1	38252657	missense	possibly damaging	0.81
R9146:Aff3	UTSW	1	38320119	missense	probably benign	0.27
R9149:Aff3	UTSW	1	38181316	missense	probably damaging	1.00
R9157:Aff3	UTSW	1	38210478	missense	probably benign	0.45
R9446:Aff3	UTSW	1	38535256	missense	probably benign	0.30
R9581:Aff3	UTSW	1	38210185	missense	probably benign
R9645:Aff3	UTSW	1	38210040	missense	probably damaging	1.00
R9674:Aff3	UTSW	1	38209783	missense	probably damaging	1.00
Z1176:Aff3	UTSW	1	38329872	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTGACGATGGTCGATG -3'
(R):5'- ATCTGTTCTCAGTGAGTCTGC -3'

Sequencing Primer
(F):5'- CTGACGATGGTCGATGGGGAC -3'
(R):5'- AGTGAGTCTGCGCTGACCTAC -3'

Posted On

2016-06-06