Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Aff3'

15770

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

LAF-4, 3222402O04Rik, Laf4

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0004 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38216407-38704036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38308807 bp (GRCm39)

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]

AlphaFold

P51827

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: 72.9%
3x: 51.7%
10x: 14.4%
20x: 3.8%

Validation Efficiency

93% (26/28)

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,303,218 (GRCm39)	E9D	possibly damaging	Het
Chia1	G	T	3: 106,036,325 (GRCm39)	A302S	probably damaging	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Garre1	A	T	7: 33,955,853 (GRCm39)	F412Y	probably damaging	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het

Other mutations in Aff3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Aff3	APN	1	38,574,762 (GRCm39)	missense	probably damaging	1.00
IGL02263:Aff3	APN	1	38,574,680 (GRCm39)	missense	probably damaging	1.00
IGL02962:Aff3	APN	1	38,574,737 (GRCm39)	missense	probably damaging	1.00
IGL03003:Aff3	APN	1	38,248,651 (GRCm39)	missense	probably damaging	1.00
IGL03180:Aff3	APN	1	38,574,743 (GRCm39)	missense	probably damaging	1.00
IGL03389:Aff3	APN	1	38,249,430 (GRCm39)	missense	possibly damaging	0.62
PIT4377001:Aff3	UTSW	1	38,578,044 (GRCm39)	missense	probably damaging	0.99
PIT4544001:Aff3	UTSW	1	38,249,443 (GRCm39)	missense	probably benign	0.01
R0004:Aff3	UTSW	1	38,308,807 (GRCm39)	missense	possibly damaging	0.46
R0026:Aff3	UTSW	1	38,242,974 (GRCm39)	missense	probably benign	0.00
R0279:Aff3	UTSW	1	38,574,650 (GRCm39)	missense	probably damaging	1.00
R0344:Aff3	UTSW	1	38,243,013 (GRCm39)	missense	probably benign
R0375:Aff3	UTSW	1	38,244,021 (GRCm39)	missense	possibly damaging	0.46
R0605:Aff3	UTSW	1	38,249,068 (GRCm39)	missense	probably damaging	1.00
R0613:Aff3	UTSW	1	38,249,004 (GRCm39)	missense	probably benign	0.09
R0742:Aff3	UTSW	1	38,666,189 (GRCm39)	missense	probably damaging	0.99
R1156:Aff3	UTSW	1	38,243,991 (GRCm39)	missense	probably benign
R1255:Aff3	UTSW	1	38,243,965 (GRCm39)	splice site	probably null
R1448:Aff3	UTSW	1	38,230,364 (GRCm39)	missense	probably damaging	1.00
R1760:Aff3	UTSW	1	38,368,945 (GRCm39)	splice site	probably benign
R1780:Aff3	UTSW	1	38,574,783 (GRCm39)	missense	probably damaging	1.00
R1855:Aff3	UTSW	1	38,249,385 (GRCm39)	missense	probably benign	0.23
R2011:Aff3	UTSW	1	38,246,996 (GRCm39)	missense	probably benign	0.01
R2331:Aff3	UTSW	1	38,243,971 (GRCm39)	splice site	probably null
R2965:Aff3	UTSW	1	38,248,791 (GRCm39)	missense	probably damaging	1.00
R2970:Aff3	UTSW	1	38,574,103 (GRCm39)	missense	probably damaging	0.97
R3015:Aff3	UTSW	1	38,249,649 (GRCm39)	missense	probably benign	0.00
R3763:Aff3	UTSW	1	38,291,770 (GRCm39)	splice site	probably benign
R4174:Aff3	UTSW	1	38,247,008 (GRCm39)	missense	probably damaging	0.96
R4436:Aff3	UTSW	1	38,248,768 (GRCm39)	missense	possibly damaging	0.75
R4661:Aff3	UTSW	1	38,666,209 (GRCm39)	missense	possibly damaging	0.94
R5069:Aff3	UTSW	1	38,220,694 (GRCm39)	critical splice donor site	probably null
R5566:Aff3	UTSW	1	38,220,505 (GRCm39)	missense	probably damaging	1.00
R6023:Aff3	UTSW	1	38,257,451 (GRCm39)	missense	probably damaging	1.00
R6209:Aff3	UTSW	1	38,232,670 (GRCm39)	missense	probably benign	0.28
R6467:Aff3	UTSW	1	38,247,098 (GRCm39)	missense	probably benign	0.25
R6748:Aff3	UTSW	1	38,574,327 (GRCm39)	missense	probably damaging	1.00
R6862:Aff3	UTSW	1	38,445,578 (GRCm39)	missense	possibly damaging	0.87
R6880:Aff3	UTSW	1	38,666,209 (GRCm39)	missense	possibly damaging	0.94
R6880:Aff3	UTSW	1	38,574,243 (GRCm39)	missense	probably damaging	0.99
R7187:Aff3	UTSW	1	38,257,478 (GRCm39)	missense	probably damaging	0.98
R8322:Aff3	UTSW	1	38,220,742 (GRCm39)	missense	possibly damaging	0.65
R8329:Aff3	UTSW	1	38,244,135 (GRCm39)	missense	probably benign	0.13
R8737:Aff3	UTSW	1	38,308,810 (GRCm39)	missense	probably damaging	1.00
R9093:Aff3	UTSW	1	38,291,738 (GRCm39)	missense	possibly damaging	0.81
R9146:Aff3	UTSW	1	38,359,200 (GRCm39)	missense	probably benign	0.27
R9149:Aff3	UTSW	1	38,220,397 (GRCm39)	missense	probably damaging	1.00
R9157:Aff3	UTSW	1	38,249,559 (GRCm39)	missense	probably benign	0.45
R9446:Aff3	UTSW	1	38,574,337 (GRCm39)	missense	probably benign	0.30
R9581:Aff3	UTSW	1	38,249,266 (GRCm39)	missense	probably benign
R9645:Aff3	UTSW	1	38,249,121 (GRCm39)	missense	probably damaging	1.00
R9674:Aff3	UTSW	1	38,248,864 (GRCm39)	missense	probably damaging	1.00
Z1176:Aff3	UTSW	1	38,368,953 (GRCm39)	nonsense	probably null

Posted On

2012-12-21