Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Aff1'

709683

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

Mllt2h, 9630032B01Rik, Af4, Rob

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103840307-104003188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103981685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 608 (S608L)

Ref Sequence

ENSEMBL: ENSMUSP00000059744 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031256
AA Change: S616L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: S616L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: S608L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: S608L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153165
AA Change: S616L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: S616L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,348,500 (GRCm39)	Y196H	probably benign	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Itih4	G	T	14: 30,608,533 (GRCm39)	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nr2f2	T	A	7: 70,007,856 (GRCm39)	I209F	probably damaging	Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,632,299 (GRCm39)	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rdx	A	G	9: 51,980,168 (GRCm39)	K254E	possibly damaging	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	Het

Other mutations in Aff1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Aff1	APN	5	103,931,943 (GRCm39)	missense	probably damaging	1.00
IGL02060:Aff1	APN	5	103,931,715 (GRCm39)	missense	possibly damaging	0.51
IGL02081:Aff1	APN	5	103,982,171 (GRCm39)	missense	probably damaging	1.00
IGL02108:Aff1	APN	5	103,958,975 (GRCm39)	critical splice donor site	probably null
IGL03056:Aff1	APN	5	103,958,947 (GRCm39)	missense	probably damaging	0.99
IGL03332:Aff1	APN	5	103,988,971 (GRCm39)	nonsense	probably null
IGL03340:Aff1	APN	5	103,931,670 (GRCm39)	missense	possibly damaging	0.76
IGL03382:Aff1	APN	5	103,988,926 (GRCm39)	missense	possibly damaging	0.86
PIT4495001:Aff1	UTSW	5	103,997,391 (GRCm39)	missense	probably benign	0.16
R0013:Aff1	UTSW	5	103,976,350 (GRCm39)	nonsense	probably null
R0219:Aff1	UTSW	5	103,958,906 (GRCm39)	splice site	probably benign
R0520:Aff1	UTSW	5	103,995,617 (GRCm39)	nonsense	probably null
R0607:Aff1	UTSW	5	103,976,320 (GRCm39)	missense	probably damaging	1.00
R0883:Aff1	UTSW	5	103,974,004 (GRCm39)	splice site	probably benign
R1662:Aff1	UTSW	5	103,988,923 (GRCm39)	missense	probably damaging	0.99
R1730:Aff1	UTSW	5	103,981,378 (GRCm39)	missense	probably damaging	1.00
R1850:Aff1	UTSW	5	103,981,773 (GRCm39)	missense	probably damaging	1.00
R3411:Aff1	UTSW	5	103,902,572 (GRCm39)	start codon destroyed	probably null	0.53
R4007:Aff1	UTSW	5	103,932,088 (GRCm39)	missense	probably benign	0.15
R4207:Aff1	UTSW	5	103,966,854 (GRCm39)	critical splice donor site	probably null
R4702:Aff1	UTSW	5	103,958,935 (GRCm39)	missense	probably damaging	1.00
R4730:Aff1	UTSW	5	103,990,939 (GRCm39)	missense	possibly damaging	0.95
R4784:Aff1	UTSW	5	103,994,905 (GRCm39)	nonsense	probably null
R5166:Aff1	UTSW	5	103,902,523 (GRCm39)	start gained	probably benign
R5294:Aff1	UTSW	5	103,959,023 (GRCm39)	intron	probably benign
R5435:Aff1	UTSW	5	103,902,198 (GRCm39)	unclassified	probably benign
R5436:Aff1	UTSW	5	103,931,736 (GRCm39)	missense	probably damaging	1.00
R6065:Aff1	UTSW	5	103,990,118 (GRCm39)	missense	probably damaging	1.00
R6114:Aff1	UTSW	5	103,990,163 (GRCm39)	missense	probably damaging	0.97
R6298:Aff1	UTSW	5	103,902,586 (GRCm39)	missense	possibly damaging	0.68
R7095:Aff1	UTSW	5	103,990,951 (GRCm39)	missense	probably damaging	0.97
R7261:Aff1	UTSW	5	103,976,245 (GRCm39)	missense	probably damaging	0.97
R7350:Aff1	UTSW	5	103,994,958 (GRCm39)	missense	probably benign	0.28
R7423:Aff1	UTSW	5	103,994,967 (GRCm39)	missense	probably damaging	1.00
R7469:Aff1	UTSW	5	103,981,413 (GRCm39)	missense	probably benign	0.00
R7604:Aff1	UTSW	5	103,995,675 (GRCm39)	missense	probably benign	0.09
R7607:Aff1	UTSW	5	103,997,325 (GRCm39)	missense	possibly damaging	0.72
R8014:Aff1	UTSW	5	103,981,735 (GRCm39)	missense	possibly damaging	0.82
R8219:Aff1	UTSW	5	103,994,199 (GRCm39)	missense	probably damaging	1.00
R8315:Aff1	UTSW	5	103,958,956 (GRCm39)	missense	probably damaging	0.99
R8837:Aff1	UTSW	5	103,982,078 (GRCm39)	missense	possibly damaging	0.77
R8957:Aff1	UTSW	5	103,981,634 (GRCm39)	missense	possibly damaging	0.82
R9159:Aff1	UTSW	5	103,990,131 (GRCm39)	missense	possibly damaging	0.89
R9381:Aff1	UTSW	5	103,981,733 (GRCm39)	missense	possibly damaging	0.85
R9705:Aff1	UTSW	5	103,932,276 (GRCm39)	missense	possibly damaging	0.88
R9725:Aff1	UTSW	5	103,994,931 (GRCm39)	missense	probably damaging	0.99
R9764:Aff1	UTSW	5	103,997,365 (GRCm39)	missense	probably damaging	1.00
Z1177:Aff1	UTSW	5	103,931,619 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCAGCATCCTGATTCCAAAGAC -3'
(R):5'- CGTGGAGCTCTTGTGCTTCC -3'

Sequencing Primer
(F):5'- ATCCTGATTCCAAAGACCCTCTC -3'
(R):5'- CCTCTTCTCACTGGGGGTG -3'

Posted On

2022-04-18