Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Afdn'

33964

Institutional Source

Beutler Lab

Gene Symbol

Afdn

Ensembl Gene

ENSMUSG00000068036

Gene Name

afadin, adherens junction formation factor

Synonyms

Afadin, I-afadin, AF6, Mllt4, S-afadin, 5033403D15Rik

MMRRC Submission

038471-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

13760539-13906150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13899146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1700 (T1700A)

Ref Sequence

ENSEMBL: ENSMUSP00000128891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137708] [ENSMUST00000137784] [ENSMUST00000139666] [ENSMUST00000150848] [ENSMUST00000170827]

AlphaFold

Q9QZQ1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133422

Predicted Effect

unknown
Transcript: ENSMUST00000137531
AA Change: T274A

SMART Domains

Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: T274A

Domain	Start	End	E-Value	Type
coiled coil region	70	110	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC
coiled coil region	163	224	N/A	INTRINSIC
low complexity region	252	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137708

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036

Domain	Start	End	E-Value	Type
RA	39	133	5.88e-29	SMART
coiled coil region	146	186	N/A	INTRINSIC
RA	246	348	1.56e-24	SMART
FHA	425	477	1.24e-5	SMART
DIL	785	891	4.11e-39	SMART
PDZ	1016	1093	8.07e-19	SMART
low complexity region	1309	1318	N/A	INTRINSIC
low complexity region	1386	1392	N/A	INTRINSIC
coiled coil region	1409	1447	N/A	INTRINSIC
coiled coil region	1523	1563	N/A	INTRINSIC
low complexity region	1575	1587	N/A	INTRINSIC
coiled coil region	1616	1660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137784
AA Change: T1722A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: T1722A

Domain	Start	End	E-Value	Type
RA	39	133	5.88e-29	SMART
coiled coil region	146	186	N/A	INTRINSIC
RA	246	348	1.56e-24	SMART
FHA	425	477	1.24e-5	SMART
DIL	792	898	4.11e-39	SMART
PDZ	1023	1100	8.07e-19	SMART
low complexity region	1316	1325	N/A	INTRINSIC
low complexity region	1393	1399	N/A	INTRINSIC
coiled coil region	1416	1454	N/A	INTRINSIC
coiled coil region	1530	1570	N/A	INTRINSIC
low complexity region	1582	1594	N/A	INTRINSIC
coiled coil region	1600	1672	N/A	INTRINSIC
low complexity region	1699	1713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139666
AA Change: T1715A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: T1715A

Domain	Start	End	E-Value	Type
RA	39	133	5.88e-29	SMART
coiled coil region	146	186	N/A	INTRINSIC
RA	246	348	1.56e-24	SMART
FHA	425	477	1.24e-5	SMART
DIL	785	891	4.11e-39	SMART
PDZ	1016	1093	8.07e-19	SMART
low complexity region	1309	1318	N/A	INTRINSIC
low complexity region	1386	1392	N/A	INTRINSIC
coiled coil region	1409	1447	N/A	INTRINSIC
coiled coil region	1523	1563	N/A	INTRINSIC
low complexity region	1575	1587	N/A	INTRINSIC
coiled coil region	1593	1665	N/A	INTRINSIC
low complexity region	1692	1706	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150848
AA Change: T1700A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: T1700A

Domain	Start	End	E-Value	Type
RA	39	133	5.88e-29	SMART
coiled coil region	146	186	N/A	INTRINSIC
RA	246	348	1.56e-24	SMART
FHA	410	462	1.24e-5	SMART
DIL	770	876	4.11e-39	SMART
PDZ	1001	1078	8.07e-19	SMART
low complexity region	1294	1303	N/A	INTRINSIC
low complexity region	1371	1377	N/A	INTRINSIC
coiled coil region	1394	1432	N/A	INTRINSIC
coiled coil region	1508	1548	N/A	INTRINSIC
low complexity region	1560	1572	N/A	INTRINSIC
coiled coil region	1578	1650	N/A	INTRINSIC
low complexity region	1677	1691	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170827
AA Change: T1700A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: T1700A

Domain	Start	End	E-Value	Type
RA	39	133	5.88e-29	SMART
coiled coil region	146	186	N/A	INTRINSIC
RA	246	348	1.56e-24	SMART
FHA	410	462	1.24e-5	SMART
DIL	770	876	4.11e-39	SMART
PDZ	1001	1078	8.07e-19	SMART
low complexity region	1294	1303	N/A	INTRINSIC
low complexity region	1371	1377	N/A	INTRINSIC
coiled coil region	1394	1432	N/A	INTRINSIC
coiled coil region	1508	1548	N/A	INTRINSIC
low complexity region	1560	1572	N/A	INTRINSIC
coiled coil region	1578	1650	N/A	INTRINSIC
low complexity region	1677	1691	N/A	INTRINSIC

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	Het

Other mutations in Afdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Afdn	APN	17	13884628	missense	probably damaging	1.00
IGL00784:Afdn	APN	17	13849263	splice site	probably benign
IGL00971:Afdn	APN	17	13852313	splice site	probably benign
IGL01403:Afdn	APN	17	13903870	missense	probably damaging	1.00
IGL01944:Afdn	APN	17	13810481	missense	probably damaging	1.00
IGL02474:Afdn	APN	17	13818229	missense	probably damaging	1.00
IGL02615:Afdn	APN	17	13825976	missense	probably benign	0.00
IGL02664:Afdn	APN	17	13852466	splice site	probably benign
IGL03036:Afdn	APN	17	13888088	missense	probably benign	0.12
jubilee	UTSW	17	13887986	missense	probably damaging	1.00
IGL03134:Afdn	UTSW	17	13846286	missense	probably benign	0.04
R0112:Afdn	UTSW	17	13884637	missense	probably damaging	1.00
R0305:Afdn	UTSW	17	13888514	splice site	probably null
R0310:Afdn	UTSW	17	13885508	critical splice donor site	probably null
R0711:Afdn	UTSW	17	13852436	missense	probably damaging	1.00
R0828:Afdn	UTSW	17	13903998	missense	probably damaging	1.00
R1268:Afdn	UTSW	17	13887986	missense	probably damaging	1.00
R1317:Afdn	UTSW	17	13846273	missense	probably benign	0.11
R1386:Afdn	UTSW	17	13846536	missense	probably damaging	1.00
R1438:Afdn	UTSW	17	13855390	missense	probably damaging	1.00
R1607:Afdn	UTSW	17	13810501	missense	probably damaging	1.00
R1819:Afdn	UTSW	17	13850848	missense	probably damaging	1.00
R1872:Afdn	UTSW	17	13881316	missense	probably damaging	1.00
R1880:Afdn	UTSW	17	13852353	missense	possibly damaging	0.84
R2049:Afdn	UTSW	17	13810433	missense	probably damaging	0.96
R2140:Afdn	UTSW	17	13810433	missense	probably damaging	0.96
R2142:Afdn	UTSW	17	13810433	missense	probably damaging	0.96
R2162:Afdn	UTSW	17	13896174	missense	probably benign	0.01
R2221:Afdn	UTSW	17	13883737	splice site	probably benign
R2223:Afdn	UTSW	17	13883737	splice site	probably benign
R2291:Afdn	UTSW	17	13888891	missense	probably damaging	1.00
R2993:Afdn	UTSW	17	13891000	critical splice donor site	probably null
R3402:Afdn	UTSW	17	13883914	missense	probably damaging	1.00
R3403:Afdn	UTSW	17	13883914	missense	probably damaging	1.00
R3690:Afdn	UTSW	17	13888409	missense	probably damaging	1.00
R3691:Afdn	UTSW	17	13888409	missense	probably damaging	1.00
R3764:Afdn	UTSW	17	13846589	missense	probably benign	0.07
R3832:Afdn	UTSW	17	13896174	missense	probably benign	0.01
R4002:Afdn	UTSW	17	13883917	missense	probably damaging	1.00
R4440:Afdn	UTSW	17	13850890	missense	probably damaging	1.00
R4621:Afdn	UTSW	17	13888820	missense	probably damaging	1.00
R4935:Afdn	UTSW	17	13890966	missense	probably benign	0.30
R5279:Afdn	UTSW	17	13888952	missense	probably damaging	1.00
R5421:Afdn	UTSW	17	13832406	missense	probably benign	0.25
R5689:Afdn	UTSW	17	13855359	missense	probably damaging	1.00
R6332:Afdn	UTSW	17	13810445	missense	possibly damaging	0.92
R6369:Afdn	UTSW	17	13835343	nonsense	probably null
R6433:Afdn	UTSW	17	13881299	missense	probably damaging	1.00
R6467:Afdn	UTSW	17	13804053	missense	probably damaging	1.00
R6500:Afdn	UTSW	17	13822372	missense	possibly damaging	0.67
R6564:Afdn	UTSW	17	13896089	missense	probably benign
R6705:Afdn	UTSW	17	13888021	missense	probably benign	0.01
R6733:Afdn	UTSW	17	13823353	missense	probably benign	0.39
R6983:Afdn	UTSW	17	13881321	missense	probably damaging	1.00
R7089:Afdn	UTSW	17	13890812	splice site	probably null
R7161:Afdn	UTSW	17	13888946	missense	possibly damaging	0.55
R7175:Afdn	UTSW	17	13888607	missense	probably damaging	1.00
R7492:Afdn	UTSW	17	13848376	critical splice donor site	probably null
R7567:Afdn	UTSW	17	13888808	missense	probably benign	0.19
R7581:Afdn	UTSW	17	13849238	missense	probably damaging	1.00
R7694:Afdn	UTSW	17	13888882	missense	probably damaging	0.99
R7722:Afdn	UTSW	17	13808969	missense	probably benign	0.40
R7794:Afdn	UTSW	17	13882433	missense	probably damaging	1.00
R8039:Afdn	UTSW	17	13899141	missense	probably damaging	0.99
R8444:Afdn	UTSW	17	13883800	missense	probably benign	0.31
R8694:Afdn	UTSW	17	13888379	missense	probably benign
R8728:Afdn	UTSW	17	13898945	missense	probably damaging	1.00
R8770:Afdn	UTSW	17	13883937	critical splice donor site	probably null
R8887:Afdn	UTSW	17	13896139	nonsense	probably null
R9101:Afdn	UTSW	17	13823444	missense	probably damaging	0.99
R9169:Afdn	UTSW	17	13852365	missense	probably benign	0.02
R9275:Afdn	UTSW	17	13804008	missense	probably damaging	1.00
R9276:Afdn	UTSW	17	13804008	missense	probably damaging	1.00
R9277:Afdn	UTSW	17	13804008	missense	probably damaging	1.00
R9278:Afdn	UTSW	17	13804008	missense	probably damaging	1.00
R9281:Afdn	UTSW	17	13804008	missense	probably damaging	1.00
R9573:Afdn	UTSW	17	13829967	missense	probably damaging	1.00
R9619:Afdn	UTSW	17	13881304	missense	probably damaging	1.00
R9746:Afdn	UTSW	17	13846520	missense	probably benign	0.00
R9797:Afdn	UTSW	17	13846300	missense	probably benign
X0060:Afdn	UTSW	17	13818170	nonsense	probably null
X0064:Afdn	UTSW	17	13888027	missense	possibly damaging	0.60
Z1088:Afdn	UTSW	17	13883780	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACAGCCGCCTAGAAGCTGAGAG -3'
(R):5'- CCAAATGGCAGGGGTACAGAGATTC -3'

Sequencing Primer
(F):5'- ACTTCCACGGGACTATGAGC -3'
(R):5'- GAAAGGTCTGATTCACCATTCC -3'

Posted On

2013-05-09