Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Aff3'

516615

Institutional Source

Beutler Lab

Gene Symbol

Aff3

Ensembl Gene

ENSMUSG00000037138

Gene Name

AF4/FMR2 family, member 3

Synonyms

LAF-4, 3222402O04Rik, Laf4

MMRRC Submission

044600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38216407-38704036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38247098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 829 (D829V)

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: D828V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: D828V

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: D829V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: D829V

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Cav1	A	G	6: 17,308,034 (GRCm39)	D62G	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cd55	A	T	1: 130,375,348 (GRCm39)		probably benign	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Chd1l	A	T	3: 97,470,849 (GRCm39)	N815K	probably damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Kcmf1	G	A	6: 72,820,082 (GRCm39)	R306C	probably damaging	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zfp57	T	C	17: 37,316,942 (GRCm39)	S7P	possibly damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTTCAGACTCAGCAGCCTG -3'
(R):5'- CCAACAAGCTTGTGCAGAGC -3'

Sequencing Primer
(F):5'- ACTCAGCAGCCTGCCTCAG -3'
(R):5'- ACCTTATTCTCATACCAGTAAGGG -3'

Posted On

2018-05-21