Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Aff3'

352818

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

Laf4, LAF-4, 3222402O04Rik

MMRRC Submission

041600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4661 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

38177326-38664955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38627128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 5 (D5G)

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

possibly damaging
Transcript: ENSMUST00000039827
AA Change: D5G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: D5G

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: D5G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: D5G

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 benign
Transcript: ENSMUST00000134963

Predicted Effect

probably benign
Transcript: ENSMUST00000212668
AA Change: D5G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,287,330	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,570,113	T366I	probably damaging	Het
Adamts7	C	A	9: 90,193,330	H1038Q	probably benign	Het
Amhr2	A	T	15: 102,454,253	D485V	probably damaging	Het
Arhgap35	A	T	7: 16,564,738	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,516,477	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,658,500		probably benign	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Atp9a	A	G	2: 168,637,672	F928L	possibly damaging	Het
BC034090	A	T	1: 155,232,475	D13E	probably damaging	Het
Bco1	A	G	8: 117,129,241	E425G	probably benign	Het
Brsk1	T	C	7: 4,707,299	S436P	possibly damaging	Het
C1s1	T	C	6: 124,536,490	I193V	probably benign	Het
Calb2	A	G	8: 110,168,077	F21L	probably benign	Het
Catsperz	T	G	19: 6,924,803	T108P	probably benign	Het
Cep57l1	T	A	10: 41,719,771	D329V	possibly damaging	Het
Cfdp1	A	G	8: 111,830,945	F188S	probably benign	Het
Chrna2	G	A	14: 66,148,843	G146D	probably damaging	Het
Col6a1	A	C	10: 76,714,672	F520V	unknown	Het
Cyb5d2	C	A	11: 72,778,945	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,786,846	T321A	probably benign	Het
Dnajc16	A	C	4: 141,763,548	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,340,533	V888M	probably damaging	Het
F5	A	C	1: 164,184,920	T468P	probably damaging	Het
Faap24	A	G	7: 35,395,084	M97T	probably benign	Het
Fam227b	A	T	2: 126,007,310	I334N	probably damaging	Het
Frem2	G	T	3: 53,655,443	P548T	probably damaging	Het
Gfm1	A	G	3: 67,433,398	E94G	probably damaging	Het
Gm17606	A	T	14: 54,648,239		probably benign	Het
Gnb2	A	T	5: 137,530,253	M1K	probably null	Het
Gys1	G	A	7: 45,454,834	A544T	probably damaging	Het
Hdac5	T	C	11: 102,205,849	Y230C	probably damaging	Het
Hunk	A	T	16: 90,447,308		probably null	Het
Ifnl2	A	G	7: 28,510,210	F51L	probably damaging	Het
Itpr1	T	C	6: 108,410,931		probably null	Het
Kcnj1	A	G	9: 32,396,622	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,399,459	S322T	probably damaging	Het
Kif27	T	C	13: 58,323,916	E786G	probably damaging	Het
Kif6	T	C	17: 49,753,881	V414A	probably benign	Het
L1td1	A	G	4: 98,733,624	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,402,885	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,839,647	M74L	probably damaging	Het
Lrp6	C	T	6: 134,511,267	D289N	probably benign	Het
Mroh7	A	G	4: 106,691,513		probably null	Het
Muc4	A	C	16: 32,769,277	E2885A	possibly damaging	Het
Myo18b	G	T	5: 112,875,175		probably benign	Het
Ncln	G	A	10: 81,493,068	A172V	probably damaging	Het
Nek9	G	A	12: 85,320,892	T335M	possibly damaging	Het
Notch2	A	G	3: 98,135,513	Y1398C	probably damaging	Het
Olfr472	A	T	7: 107,902,981	H88L	probably benign	Het
Olfr710	T	A	7: 106,944,867	I45F	probably damaging	Het
Olfr981	A	T	9: 40,022,527	I45F	probably damaging	Het
Pax2	G	A	19: 44,760,937	V40M	probably damaging	Het
Pde6c	A	G	19: 38,169,439	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,620,969	I80V	probably damaging	Het
Pold1	G	T	7: 44,532,809	P1100T	probably damaging	Het
Prune2	T	C	19: 17,000,023	Y41H	probably damaging	Het
Rgl2	C	T	17: 33,933,226	A329V	possibly damaging	Het
Rilp	T	A	11: 75,511,424	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,514,688	V19A	probably benign	Het
Rtp3	T	C	9: 110,986,451		probably null	Het
Rufy4	A	G	1: 74,133,107	K246E	probably damaging	Het
Saraf	C	A	8: 34,168,462	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,638,684	N828K	probably benign	Het
Src	C	T	2: 157,469,932	P527S	probably damaging	Het
Susd3	C	T	13: 49,231,302		probably null	Het
Syngap1	T	C	17: 26,966,906	L1270P	probably damaging	Het
Taf1c	G	A	8: 119,598,850	P758S	probably damaging	Het
Tenm2	A	T	11: 36,024,448	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,630,151	I703F	probably damaging	Het
Thap1	C	G	8: 26,160,846	T48S	probably benign	Het
Tspear	T	C	10: 77,866,329	F199L	probably benign	Het
Usp17lc	A	T	7: 103,418,590	H364L	probably benign	Het
Usp9x	A	G	X: 13,123,508	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 182,157,224	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,272,627	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,504,692	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,267,623	I838S	probably benign	Het
Wdr64	A	T	1: 175,726,494	S197C	probably damaging	Het
Zfp248	A	T	6: 118,433,307	V47E	possibly 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
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
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'- TGAGCTAGCGCAGGCAAG -3'
(R):5'- CTCTCGGCGAGTGTGGCT -3'

Sequencing Primer
(F):5'- ACCGACGAATTCACGGGG -3'
(R):5'- TGCCGGGCACTGAGAGC -3'

Posted On

2015-10-08