Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Aff3'

656589

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

Laf4, LAF-4, 3222402O04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8329 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

38177326-38664955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38205054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 879 (R879W)

Ref Sequence

ENSEMBL: ENSMUSP00000092637 (fasta)

Gene Model

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

AlphaFold

P51827

Predicted Effect

probably benign
Transcript: ENSMUST00000039827
AA Change: R878W

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: R878W

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 benign
Transcript: ENSMUST00000095027
AA Change: R879W

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: R879W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,543,741		probably null	Het
Ackr4	A	G	9: 104,099,461	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376	I596T	possibly damaging	Het
Apob	A	G	12: 8,011,135	R3206G	probably damaging	Het
Atg7	T	A	6: 114,686,096	D224E	possibly damaging	Het
Capn12	T	C	7: 28,883,201	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,229,037	V224G	probably damaging	Het
Ces4a	G	A	8: 105,148,082	V452I	probably damaging	Het
Cherp	G	A	8: 72,462,008	R834C		Het
Clptm1l	T	A	13: 73,612,428	I310N	probably damaging	Het
Cog3	A	T	14: 75,740,563	D230E	probably damaging	Het
Crb1	T	A	1: 139,237,267	I1101F	probably damaging	Het
Cts6	A	T	13: 61,195,468	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,186,462	C435*	probably null	Het
Defb13	A	G	8: 21,948,546	E40G	probably benign	Het
Dis3l	T	C	9: 64,311,830	D606G	possibly damaging	Het
Dopey2	T	C	16: 93,771,787	L1579P	probably damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gcn1l1	G	A	5: 115,609,862	G1776E	probably damaging	Het
Gls2	A	G	10: 128,201,285	T232A	probably benign	Het
Gm853	C	T	4: 130,215,363	V295M	possibly damaging	Het
Gprc6a	A	T	10: 51,627,259	Y169*	probably null	Het
Guca2b	T	C	4: 119,658,804	S18G	unknown	Het
Hars2	A	G	18: 36,789,235	D301G	possibly damaging	Het
Haus5	T	A	7: 30,659,559	Q226L	possibly damaging	Het
Hc	G	A	2: 35,012,898		probably null	Het
Hivep2	T	C	10: 14,128,267	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,991,111	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,668,317	R3L	probably benign	Het
Hspa8	T	G	9: 40,802,601	I130S	probably damaging	Het
Ier5l	C	A	2: 30,472,849	C388F	possibly damaging	Het
Lmx1a	A	G	1: 167,689,803	N10S	probably benign	Het
Map2	T	C	1: 66,415,113	I1054T	probably benign	Het
Me1	C	T	9: 86,619,737	D268N	probably damaging	Het
Muc6	G	A	7: 141,640,258	P1501S	unknown	Het
Myo1d	T	C	11: 80,638,074	M641V	probably benign	Het
Nuggc	G	A	14: 65,641,282	R667K	probably benign	Het
Olfr62	A	C	4: 118,666,407	N297H	probably damaging	Het
Olfr742	T	C	14: 50,515,558	F118S	probably damaging	Het
Oprl1	T	A	2: 181,718,924	C231S	probably damaging	Het
Pard3b	C	A	1: 62,637,798	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,418,048	Y158C	probably damaging	Het
Prune2	T	G	19: 17,121,265	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,884,540	T158K	probably damaging	Het
Rbm42	T	A	7: 30,645,157	E227V	unknown	Het
Ripor3	T	C	2: 167,983,199	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,662,510	H3764L	possibly damaging	Het
Sbno2	T	C	10: 80,064,387	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,535,964	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,148,583	L73P	probably damaging	Het
Spag16	T	C	1: 69,895,248	I278T	probably benign	Het
Stx18	T	A	5: 38,128,106	L274*	probably null	Het
Terb1	A	T	8: 104,484,371	N341K	probably damaging	Het
Timm29	A	G	9: 21,593,705	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,568,465	M370L	probably benign	Het
Tmtc3	T	A	10: 100,447,434	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,833	C699*	probably null	Het
Trav5d-4	G	A	14: 53,001,751	W13*	probably null	Het
Trdn	A	G	10: 33,444,078		probably null	Het
Tsg101	A	T	7: 46,909,060	Y68N	probably damaging	Het
Ttn	A	G	2: 76,833,718	V11649A	unknown	Het
Wnk2	A	T	13: 49,095,438	V379D	probably damaging	Het
Xpnpep1	A	G	19: 53,002,472		probably null	Het
Yme1l1	C	T	2: 23,164,585	Q139*	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
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
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'- TTCTAGGCTAGGGACAGAGTG -3'
(R):5'- CTGGTGCCATAAAGTCACTTCTC -3'

Sequencing Primer
(F):5'- TGGCGGGCTCAGTTTCAC -3'
(R):5'- GGTGCCATAAAGTCACTTCTCCAAAG -3'

Posted On

2021-01-13