Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Aff1'

710006

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 #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103833867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 624 (Q624L)

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 damaging
Transcript: ENSMUST00000031256
AA Change: Q632L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: Q632L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054979
AA Change: Q624L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: Q624L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153165
AA Change: Q632L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: Q632L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
9930111J21Rik1	T	A	11: 48,948,377	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,494,088	Y261C	probably damaging	Het
Acadl	T	C	1: 66,854,646	T117A	probably benign	Het
Adamts15	A	G	9: 30,902,520	V783A	probably damaging	Het
Afg3l2	T	G	18: 67,442,381	E74A	probably damaging	Het
Aig1	T	C	10: 13,647,673	E238G	probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,054,005	Y958F	probably damaging	Het
Arhgef28	C	A	13: 97,899,761	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,101,088	L475P	probably damaging	Het
Atg9a	T	A	1: 75,186,082	M430L	probably benign	Het
Bco1	T	A	8: 117,110,892	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,665,283	L396P	probably damaging	Het
C5ar2	A	T	7: 16,236,962	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 180,141,483	S1212P	probably damaging	Het
Ceacam3	C	G	7: 17,159,790	Q409E		Het
Ces3b	T	C	8: 105,085,038	V62A	probably benign	Het
Dalrd3	A	G	9: 108,571,043		probably null	Het
Ddhd2	G	T	8: 25,749,822	A288E	probably benign	Het
Dnah17	T	A	11: 118,023,393	M4435L	probably benign	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,139,558	Y168H	unknown	Het
Elavl2	T	C	4: 91,308,772	N23S	probably benign	Het
Elfn1	T	C	5: 139,973,707	V822A	probably damaging	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Exoc5	C	T	14: 49,037,737	S202N	probably benign	Het
Fryl	T	C	5: 73,083,294	D1321G	probably benign	Het
Gm12258	C	T	11: 58,859,181	T394I	unknown	Het
Gm28363	T	A	1: 117,726,885	S85T	probably damaging	Het
Gm5724	T	C	6: 141,765,764	I74V	probably benign	Het
H2-Q1	A	G	17: 35,323,162	T237A	probably damaging	Het
Hectd4	A	T	5: 121,334,429	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,921,866	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,665,978	N63S	probably benign	Het
Il20rb	A	G	9: 100,461,488	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,531,719	F439I	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,711,866	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 181,109,769	I278T	probably damaging	Het
Lama1	T	C	17: 67,737,484	V126A		Het
Lama2	T	A	10: 27,188,027	R1285*	probably null	Het
Larp1	A	G	11: 58,058,706	T1054A	probably benign	Het
Lrp1	A	T	10: 127,605,468	M262K	probably benign	Het
Lrrd1	A	G	5: 3,851,074	I460V	probably benign	Het
Ltbp1	A	T	17: 75,389,439	N1606I	probably damaging	Het
Mdga2	T	C	12: 66,550,530	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,601,754	H236R	probably damaging	Het
Mrps31	G	A	8: 22,414,736	R47K	probably damaging	Het
Nae1	A	T	8: 104,523,607	I218K	probably benign	Het
Npy2r	T	C	3: 82,541,049	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,563,472	L350F	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1489	G	T	19: 13,633,283	M57I	probably damaging	Het
Olfr469	A	C	7: 107,822,605	L288W	probably damaging	Het
Olfr557	A	T	7: 102,698,447	M70L	probably damaging	Het
Pabpc1l	G	T	2: 164,025,503	C8F	probably benign	Het
Pafah1b3	A	C	7: 25,295,274	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,708,318	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,224,992	M399L	probably benign	Het
Prpsap2	T	C	11: 61,744,956	I173V	probably benign	Het
Rabggtb	A	T	3: 153,908,180	W252R	probably damaging	Het
Raph1	A	G	1: 60,501,800	F351L	unknown	Het
Rasd2	T	C	8: 75,221,961	S172P	probably damaging	Het
Rbm15	T	C	3: 107,331,436	T549A	probably benign	Het
Reln	A	G	5: 22,344,204	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,271,745	N439K	probably benign	Het
Scap	C	A	9: 110,378,771	A516D	probably damaging	Het
Selplg	T	C	5: 113,819,856	T130A	probably benign	Het
Slc12a7	A	G	13: 73,800,944	M697V	probably benign	Het
Slc22a29	A	G	19: 8,218,477	I66T	probably benign	Het
Snrnp48	A	C	13: 38,220,691	I241L	probably damaging	Het
Sptb	C	T	12: 76,587,518	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,334	S192P	probably benign	Het
Svil	A	T	18: 5,099,013	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,219,086	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,804,315	E277G	probably benign	Het
Tmtc4	T	G	14: 122,926,029	I648L	probably benign	Het
Togaram1	T	C	12: 64,967,430	V485A	probably damaging	Het
Trim43b	T	C	9: 89,087,589	I269V	probably benign	Het
Trpm2	T	A	10: 77,911,357	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,462,961	I106F	possibly damaging	Het
Vdr	G	A	15: 97,857,452	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433	S689P	probably benign	Het
Wipf2	A	G	11: 98,896,242	T366A	probably damaging	Het
Zfp128	T	C	7: 12,890,970	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,216,588	T694I	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
R7095:Aff1	UTSW	5	103843085	missense	probably damaging	0.97
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
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'- AAGAGGGGCTGTCCGAAATC -3'
(R):5'- AGGAGCTTGTCTTTACAGCC -3'

Sequencing Primer
(F):5'- TGTCCGAAATCCCCCGC -3'
(R):5'- TCCCCTTGGGCAATCACAG -3'

Posted On

2022-04-18