Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Aff3'

32365

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

Laf4, LAF-4, 3222402O04Rik

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

38177326-38664955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38269726 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 376 (D376G)

Ref Sequence

ENSEMBL: ENSMUSP00000092637 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039827
AA Change: D376G

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: D376G

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

possibly damaging
Transcript: ENSMUST00000095027
AA Change: D376G

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: D376G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	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
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
R5069:Aff3	UTSW	1	38181613	critical splice donor site	probably null
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	38535162	missense	probably damaging	0.99
R6880:Aff3	UTSW	1	38627128	missense	possibly damaging	0.94
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
Z1176:Aff3	UTSW	1	38329872	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTCAAGACATTTCAACAGACTGGAC -3'
(R):5'- TTCTAAAACTGCCAACTCGGAAGGAG -3'

Sequencing Primer
(F):5'- TTTCAACAGACTGGACCAACAC -3'
(R):5'- GAGGCCATCTCATCCTGAGATTG -3'

Posted On

2013-05-09