Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Aff3'

197413

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

Laf4, LAF-4, 3222402O04Rik

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38177326-38664955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38535702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 66 (S66T)

Ref Sequence

ENSEMBL: ENSMUSP00000092637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039827] [ENSMUST00000095027] [ENSMUST00000134963] [ENSMUST00000212668]

AlphaFold

P51827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027250

SMART Domains

Protein: ENSMUSP00000027250
Gene: ENSMUSG00000037138

Domain	Start	End	E-Value	Type
Pfam:AF-4	20	171	2.7e-48	PFAM
Pfam:AF-4	159	350	2.6e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000039827
AA Change: S66T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: S66T

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 damaging
Transcript: ENSMUST00000095027
AA Change: S66T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: S66T

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

silent
Transcript: ENSMUST00000134963

Predicted Effect

probably damaging
Transcript: ENSMUST00000212668
AA Change: S91T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.4335

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	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
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
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'- TCGACTCTGCCCCAAAATGCTC -3'
(R):5'- TGGCCGTAGCACAAATACCAGTAAC -3'

Sequencing Primer
(F):5'- TCATCTATCTTGTTCACGGGAG -3'
(R):5'- CGGAGGCTAACAGCTATCTTCAG -3'

Posted On

2014-05-23