Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Aff1'

550410

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

9630032B01Rik, Af4, Rob, Mllt2h

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103843085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 967 (D967G)

Ref Sequence

ENSEMBL: ENSMUSP00000059744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031256
AA Change: D975G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: D975G

Domain	Start	End	E-Value	Type
Pfam:AF-4	16	1223	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: D967G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: D967G

Domain	Start	End	E-Value	Type
Pfam:AF-4	8	1216	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153165

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313

Domain	Start	End	E-Value	Type
Pfam:AF-4	16	871	N/A	PFAM

Meta Mutation Damage Score

0.2960

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in human childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 35,957,511	V809A	possibly damaging	Het
Adam32	T	A	8: 24,914,070	D242V	probably damaging	Het
Adamts9	T	A	6: 92,887,691	H763L	probably benign	Het
Anpep	A	T	7: 79,842,202	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,234,727	S28*	probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Bod1l	A	G	5: 41,795,068		probably null	Het
Capn5	G	A	7: 98,125,831	T534I	probably benign	Het
Cbx2	T	C	11: 119,028,059	I150T	probably damaging	Het
Cdh11	A	G	8: 102,658,267	V392A	probably damaging	Het
Cenpf	A	T	1: 189,659,176	C803S	probably benign	Het
Cep135	A	G	5: 76,594,058	T114A	probably benign	Het
Chd2	A	T	7: 73,471,881	D994E	probably damaging	Het
Chtf18	C	A	17: 25,722,678	W584C	probably damaging	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dgkh	C	A	14: 78,627,784	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,695,814	H117P	probably benign	Het
Dzip3	A	T	16: 48,927,790	N908K	probably benign	Het
Erc2	A	T	14: 27,898,593	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,221,490	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,458,034	L816F	probably damaging	Het
Fat2	A	G	11: 55,311,331	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,695,117	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,755,824		probably benign	Het
Gsk3a	A	T	7: 25,233,854	Y177N	probably damaging	Het
Haus5	T	C	7: 30,659,572	T222A	probably benign	Het
Igfbp7	G	T	5: 77,401,490	Q189K	probably benign	Het
Inppl1	A	T	7: 101,827,456	Y771*	probably null	Het
Iqck	A	T	7: 118,915,591	Y234F	probably damaging	Het
Irs1	G	T	1: 82,290,098	C132*	probably null	Het
Jmjd1c	T	G	10: 67,219,632	V277G	probably benign	Het
Klhl22	G	A	16: 17,792,750	V622M	probably damaging	Het
Kri1	C	T	9: 21,279,432	E378K		Het
Lilra6	C	T	7: 3,913,197	G221D	probably damaging	Het
Marc1	A	G	1: 184,795,240	L297P	probably damaging	Het
Mecom	T	C	3: 29,980,954	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,927,664		probably null	Het
Mical1	C	T	10: 41,479,210		probably null	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,444,063	H535L		Het
Mtfr2	C	A	10: 20,352,920	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh15	A	G	16: 49,171,909	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,177,623	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,060,793	A67T	probably damaging	Het
Noc3l	T	A	19: 38,812,345	H231L	probably benign	Het
Odf1	T	C	15: 38,219,559	Y44H	possibly damaging	Het
Olfr1052	C	T	2: 86,298,677	P287L	probably benign	Het
Olfr589	G	A	7: 103,155,330	T139I	probably damaging	Het
Olfr591	C	T	7: 103,173,046	R197H	probably benign	Het
Otol1	G	T	3: 70,018,694	E67D	probably benign	Het
Otud7b	A	G	3: 96,155,237	S598G	probably benign	Het
Ppwd1	T	A	13: 104,205,626	T607S	probably benign	Het
Prag1	A	G	8: 36,102,560	N99S	probably benign	Het
Ralgds	C	A	2: 28,549,308	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,669,687	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,677,254	Q575H	probably benign	Het
Slc9a5	A	T	8: 105,357,636	H497L	probably benign	Het
Sufu	T	A	19: 46,475,588	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,599,869	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,355,934	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,827,061	S348P	probably benign	Het
Tmem219	A	T	7: 126,891,756	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,667,834	D104G	probably damaging	Het
Uba7	A	G	9: 107,983,339	K927R	probably benign	Het
Vps54	T	G	11: 21,271,720	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,011,765		probably null	Het
Xpo7	G	A	14: 70,704,706	R73W	probably damaging	Het
Zfp532	A	T	18: 65,682,898	M781L	probably benign	Het
Zfp930	T	A	8: 69,228,541	I295K	probably benign	Het

Other mutations in Aff1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Aff1	APN	5	103784077	missense	probably damaging	1.00
IGL02060:Aff1	APN	5	103783849	missense	possibly damaging	0.51
IGL02081:Aff1	APN	5	103834305	missense	probably damaging	1.00
IGL02108:Aff1	APN	5	103811109	critical splice donor site	probably null
IGL03056:Aff1	APN	5	103811081	missense	probably damaging	0.99
IGL03332:Aff1	APN	5	103841105	nonsense	probably null
IGL03340:Aff1	APN	5	103783804	missense	possibly damaging	0.76
IGL03382:Aff1	APN	5	103841060	missense	possibly damaging	0.86
PIT4495001:Aff1	UTSW	5	103849525	missense	probably benign	0.16
R0013:Aff1	UTSW	5	103828484	nonsense	probably null
R0219:Aff1	UTSW	5	103811040	splice site	probably benign
R0520:Aff1	UTSW	5	103847751	nonsense	probably null
R0607:Aff1	UTSW	5	103828454	missense	probably damaging	1.00
R0883:Aff1	UTSW	5	103826138	splice site	probably benign
R1662:Aff1	UTSW	5	103841057	missense	probably damaging	0.99
R1730:Aff1	UTSW	5	103833512	missense	probably damaging	1.00
R1850:Aff1	UTSW	5	103833907	missense	probably damaging	1.00
R3411:Aff1	UTSW	5	103754706	start codon destroyed	probably null	0.53
R4007:Aff1	UTSW	5	103784222	missense	probably benign	0.15
R4207:Aff1	UTSW	5	103818988	critical splice donor site	probably null
R4702:Aff1	UTSW	5	103811069	missense	probably damaging	1.00
R4730:Aff1	UTSW	5	103843073	missense	possibly damaging	0.95
R4784:Aff1	UTSW	5	103847039	nonsense	probably null
R5166:Aff1	UTSW	5	103754657	start gained	probably benign
R5294:Aff1	UTSW	5	103811157	intron	probably benign
R5435:Aff1	UTSW	5	103754332	unclassified	probably benign
R5436:Aff1	UTSW	5	103783870	missense	probably damaging	1.00
R6065:Aff1	UTSW	5	103842252	missense	probably damaging	1.00
R6114:Aff1	UTSW	5	103842297	missense	probably damaging	0.97
R6298:Aff1	UTSW	5	103754720	missense	possibly damaging	0.68
R7261:Aff1	UTSW	5	103828379	missense	probably damaging	0.97
R7350:Aff1	UTSW	5	103847092	missense	probably benign	0.28
R7423:Aff1	UTSW	5	103847101	missense	probably damaging	1.00
R7469:Aff1	UTSW	5	103833547	missense	probably benign	0.00
R7604:Aff1	UTSW	5	103847809	missense	probably benign	0.09
R7607:Aff1	UTSW	5	103849459	missense	possibly damaging	0.72
R8014:Aff1	UTSW	5	103833869	missense	possibly damaging	0.82
R8219:Aff1	UTSW	5	103846333	missense	probably damaging	1.00
R8315:Aff1	UTSW	5	103811090	missense	probably damaging	0.99
R8837:Aff1	UTSW	5	103834212	missense	possibly damaging	0.77
R8957:Aff1	UTSW	5	103833768	missense	possibly damaging	0.82
R9159:Aff1	UTSW	5	103842265	missense	possibly damaging	0.89
R9377:Aff1	UTSW	5	103833819	missense	probably damaging	0.96
R9381:Aff1	UTSW	5	103833867	missense	possibly damaging	0.85
R9705:Aff1	UTSW	5	103784410	missense	possibly damaging	0.88
R9725:Aff1	UTSW	5	103847065	missense	probably damaging	0.99
R9764:Aff1	UTSW	5	103849499	missense	probably damaging	1.00
Z1177:Aff1	UTSW	5	103783753	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACTCTCCTGGCTTTGGAAGG -3'
(R):5'- CCACTGTTTAATCAAGGGCATG -3'

Sequencing Primer
(F):5'- AAGGCTGGCGCTGCTAG -3'
(R):5'- CACTGTTTAATCAAGGGCATGGGAAC -3'

Posted On

2019-05-15