Mutagenetix > Incidental Mutation

Incidental Mutation 'R2993:Afdn'

257982

Institutional Source

Beutler Lab

Gene Symbol

Afdn

Ensembl Gene

ENSMUSG00000068036

Gene Name

afadin, adherens junction formation factor

Synonyms

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

MMRRC Submission

040528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2993 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13980735-14126059 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 14111262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114485 (fasta)

Gene Model

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

AlphaFold

Q9QZQ1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124188

Predicted Effect

probably null
Transcript: ENSMUST00000137531

SMART Domains

Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036

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 null
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

SMART Domains

Protein: ENSMUSP00000119153
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	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

SMART Domains

Protein: ENSMUSP00000118318
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	1593	1665	N/A	INTRINSIC
low complexity region	1692	1706	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150848

SMART Domains

Protein: ENSMUSP00000122447
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	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

SMART Domains

Protein: ENSMUSP00000128891
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	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

0.9478

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,372,184 (GRCm39)	W67R	probably damaging	Het
Abca16	T	C	7: 120,134,384 (GRCm39)	V1377A	probably damaging	Het
Adarb2	A	C	13: 8,763,752 (GRCm39)	I550L	probably benign	Het
Ago1	G	T	4: 126,333,839 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdc7	G	A	5: 107,121,764 (GRCm39)	V226I	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cyp4a31	G	A	4: 115,427,017 (GRCm39)	V206I	probably benign	Het
Ddx47	G	T	6: 134,995,944 (GRCm39)	R120L	probably damaging	Het
Dnah7a	G	A	1: 53,542,713 (GRCm39)	L2486F	probably damaging	Het
Eif3d	A	G	15: 77,845,905 (GRCm39)	I372T	possibly damaging	Het
Eogt	A	T	6: 97,095,915 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Fbxl2	T	C	9: 113,818,484 (GRCm39)	E159G	possibly damaging	Het
Gabrb2	T	C	11: 42,488,476 (GRCm39)	V314A	probably damaging	Het
Gpr15lg	T	A	14: 36,829,402 (GRCm39)	H27L	probably benign	Het
Gtf2h3	T	C	5: 124,721,997 (GRCm39)	F32L	probably benign	Het
Gzmk	A	G	13: 113,317,011 (GRCm39)	I56T	probably damaging	Het
Katnbl1	G	T	2: 112,238,963 (GRCm39)		probably null	Het
Klhdc4	G	C	8: 122,533,320 (GRCm39)	S118*	probably null	Het
Klrb1-ps1	A	T	6: 129,097,992 (GRCm39)	K73N	probably benign	Het
Lrp1	T	C	10: 127,446,250 (GRCm39)	D98G	probably damaging	Het
Lrrfip1	C	A	1: 91,032,956 (GRCm39)	D313E	probably damaging	Het
Misp3	A	G	8: 84,738,213 (GRCm39)	L34P	probably damaging	Het
Mmp21	C	T	7: 133,280,715 (GRCm39)	R85H	probably damaging	Het
Mrpl16	A	G	19: 11,751,895 (GRCm39)	I218M	possibly damaging	Het
Mtmr4	T	A	11: 87,495,823 (GRCm39)	V553D	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spata31e2	A	T	1: 26,724,909 (GRCm39)	D90E	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,472 (GRCm39)	S16R	probably damaging	Het
Vmn2r55	C	T	7: 12,418,882 (GRCm39)	A13T	probably damaging	Het
Zer1	A	G	2: 29,991,909 (GRCm39)	V637A	probably damaging	Het

Other mutations in Afdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Afdn	APN	17	14,104,890 (GRCm39)	missense	probably damaging	1.00
IGL00784:Afdn	APN	17	14,069,525 (GRCm39)	splice site	probably benign
IGL00971:Afdn	APN	17	14,072,575 (GRCm39)	splice site	probably benign
IGL01403:Afdn	APN	17	14,124,132 (GRCm39)	missense	probably damaging	1.00
IGL01944:Afdn	APN	17	14,030,743 (GRCm39)	missense	probably damaging	1.00
IGL02474:Afdn	APN	17	14,038,491 (GRCm39)	missense	probably damaging	1.00
IGL02615:Afdn	APN	17	14,046,238 (GRCm39)	missense	probably benign	0.00
IGL02664:Afdn	APN	17	14,072,728 (GRCm39)	splice site	probably benign
IGL03036:Afdn	APN	17	14,108,350 (GRCm39)	missense	probably benign	0.12
jubilee	UTSW	17	14,108,248 (GRCm39)	missense	probably damaging	1.00
IGL03134:Afdn	UTSW	17	14,066,548 (GRCm39)	missense	probably benign	0.04
R0112:Afdn	UTSW	17	14,104,899 (GRCm39)	missense	probably damaging	1.00
R0226:Afdn	UTSW	17	14,119,408 (GRCm39)	missense	probably benign	0.00
R0305:Afdn	UTSW	17	14,108,776 (GRCm39)	splice site	probably null
R0310:Afdn	UTSW	17	14,105,770 (GRCm39)	critical splice donor site	probably null
R0711:Afdn	UTSW	17	14,072,698 (GRCm39)	missense	probably damaging	1.00
R0828:Afdn	UTSW	17	14,124,260 (GRCm39)	missense	probably damaging	1.00
R1268:Afdn	UTSW	17	14,108,248 (GRCm39)	missense	probably damaging	1.00
R1317:Afdn	UTSW	17	14,066,535 (GRCm39)	missense	probably benign	0.11
R1386:Afdn	UTSW	17	14,066,798 (GRCm39)	missense	probably damaging	1.00
R1438:Afdn	UTSW	17	14,075,652 (GRCm39)	missense	probably damaging	1.00
R1607:Afdn	UTSW	17	14,030,763 (GRCm39)	missense	probably damaging	1.00
R1819:Afdn	UTSW	17	14,071,110 (GRCm39)	missense	probably damaging	1.00
R1872:Afdn	UTSW	17	14,101,578 (GRCm39)	missense	probably damaging	1.00
R1880:Afdn	UTSW	17	14,072,615 (GRCm39)	missense	possibly damaging	0.84
R2049:Afdn	UTSW	17	14,030,695 (GRCm39)	missense	probably damaging	0.96
R2140:Afdn	UTSW	17	14,030,695 (GRCm39)	missense	probably damaging	0.96
R2142:Afdn	UTSW	17	14,030,695 (GRCm39)	missense	probably damaging	0.96
R2162:Afdn	UTSW	17	14,116,436 (GRCm39)	missense	probably benign	0.01
R2221:Afdn	UTSW	17	14,103,999 (GRCm39)	splice site	probably benign
R2223:Afdn	UTSW	17	14,103,999 (GRCm39)	splice site	probably benign
R2291:Afdn	UTSW	17	14,109,153 (GRCm39)	missense	probably damaging	1.00
R3402:Afdn	UTSW	17	14,104,176 (GRCm39)	missense	probably damaging	1.00
R3403:Afdn	UTSW	17	14,104,176 (GRCm39)	missense	probably damaging	1.00
R3690:Afdn	UTSW	17	14,108,671 (GRCm39)	missense	probably damaging	1.00
R3691:Afdn	UTSW	17	14,108,671 (GRCm39)	missense	probably damaging	1.00
R3764:Afdn	UTSW	17	14,066,851 (GRCm39)	missense	probably benign	0.07
R3832:Afdn	UTSW	17	14,116,436 (GRCm39)	missense	probably benign	0.01
R4002:Afdn	UTSW	17	14,104,179 (GRCm39)	missense	probably damaging	1.00
R4440:Afdn	UTSW	17	14,071,152 (GRCm39)	missense	probably damaging	1.00
R4621:Afdn	UTSW	17	14,109,082 (GRCm39)	missense	probably damaging	1.00
R4935:Afdn	UTSW	17	14,111,228 (GRCm39)	missense	probably benign	0.30
R5279:Afdn	UTSW	17	14,109,214 (GRCm39)	missense	probably damaging	1.00
R5421:Afdn	UTSW	17	14,052,668 (GRCm39)	missense	probably benign	0.25
R5689:Afdn	UTSW	17	14,075,621 (GRCm39)	missense	probably damaging	1.00
R6332:Afdn	UTSW	17	14,030,707 (GRCm39)	missense	possibly damaging	0.92
R6369:Afdn	UTSW	17	14,055,605 (GRCm39)	nonsense	probably null
R6433:Afdn	UTSW	17	14,101,561 (GRCm39)	missense	probably damaging	1.00
R6467:Afdn	UTSW	17	14,024,315 (GRCm39)	missense	probably damaging	1.00
R6500:Afdn	UTSW	17	14,042,634 (GRCm39)	missense	possibly damaging	0.67
R6564:Afdn	UTSW	17	14,116,351 (GRCm39)	missense	probably benign
R6705:Afdn	UTSW	17	14,108,283 (GRCm39)	missense	probably benign	0.01
R6733:Afdn	UTSW	17	14,043,615 (GRCm39)	missense	probably benign	0.39
R6983:Afdn	UTSW	17	14,101,583 (GRCm39)	missense	probably damaging	1.00
R7089:Afdn	UTSW	17	14,111,074 (GRCm39)	splice site	probably null
R7161:Afdn	UTSW	17	14,109,208 (GRCm39)	missense	possibly damaging	0.55
R7175:Afdn	UTSW	17	14,108,869 (GRCm39)	missense	probably damaging	1.00
R7492:Afdn	UTSW	17	14,068,638 (GRCm39)	critical splice donor site	probably null
R7567:Afdn	UTSW	17	14,109,070 (GRCm39)	missense	probably benign	0.19
R7581:Afdn	UTSW	17	14,069,500 (GRCm39)	missense	probably damaging	1.00
R7694:Afdn	UTSW	17	14,109,144 (GRCm39)	missense	probably damaging	0.99
R7722:Afdn	UTSW	17	14,029,231 (GRCm39)	missense	probably benign	0.40
R7794:Afdn	UTSW	17	14,102,695 (GRCm39)	missense	probably damaging	1.00
R8039:Afdn	UTSW	17	14,119,403 (GRCm39)	missense	probably damaging	0.99
R8444:Afdn	UTSW	17	14,104,062 (GRCm39)	missense	probably benign	0.31
R8694:Afdn	UTSW	17	14,108,641 (GRCm39)	missense	probably benign
R8728:Afdn	UTSW	17	14,119,207 (GRCm39)	missense	probably damaging	1.00
R8770:Afdn	UTSW	17	14,104,199 (GRCm39)	critical splice donor site	probably null
R8887:Afdn	UTSW	17	14,116,401 (GRCm39)	nonsense	probably null
R9101:Afdn	UTSW	17	14,043,706 (GRCm39)	missense	probably damaging	0.99
R9169:Afdn	UTSW	17	14,072,627 (GRCm39)	missense	probably benign	0.02
R9275:Afdn	UTSW	17	14,024,270 (GRCm39)	missense	probably damaging	1.00
R9276:Afdn	UTSW	17	14,024,270 (GRCm39)	missense	probably damaging	1.00
R9277:Afdn	UTSW	17	14,024,270 (GRCm39)	missense	probably damaging	1.00
R9278:Afdn	UTSW	17	14,024,270 (GRCm39)	missense	probably damaging	1.00
R9281:Afdn	UTSW	17	14,024,270 (GRCm39)	missense	probably damaging	1.00
R9573:Afdn	UTSW	17	14,050,229 (GRCm39)	missense	probably damaging	1.00
R9619:Afdn	UTSW	17	14,101,566 (GRCm39)	missense	probably damaging	1.00
R9746:Afdn	UTSW	17	14,066,782 (GRCm39)	missense	probably benign	0.00
R9797:Afdn	UTSW	17	14,066,562 (GRCm39)	missense	probably benign
X0060:Afdn	UTSW	17	14,038,432 (GRCm39)	nonsense	probably null
X0064:Afdn	UTSW	17	14,108,289 (GRCm39)	missense	possibly damaging	0.60
Z1088:Afdn	UTSW	17	14,104,042 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAATGCTAGAAGTTAGTCTGTG -3'
(R):5'- ACAGTGACACTTAAGGTTAACAAGG -3'

Sequencing Primer
(F):5'- TCTGTGGTTCTATAGTTTTCATCAAG -3'
(R):5'- GACACTTAAGGTTAACAAGGAAGTAG -3'

Posted On

2015-01-11