Mutagenetix > Incidental Mutations

Incidental Mutation 'R4440:Afdn'

329739

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

041705-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13760539-13906150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13850890 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 782 (W782R)

Ref Sequence

ENSEMBL: ENSMUSP00000128891 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137503

Predicted Effect

probably damaging
Transcript: ENSMUST00000137708
AA Change: W797R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: W797R

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 damaging
Transcript: ENSMUST00000137784
AA Change: W804R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: W804R

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 damaging
Transcript: ENSMUST00000139666
AA Change: W797R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: W797R

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

noncoding transcript
Transcript: ENSMUST00000141640

Predicted Effect

probably damaging
Transcript: ENSMUST00000150848
AA Change: W782R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: W782R

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 damaging
Transcript: ENSMUST00000170827
AA Change: W782R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: W782R

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

0.9218

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (46/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	G	T	2: 168,184,801	H191Q	possibly damaging	Het
Alpl	A	T	4: 137,747,813	W270R	probably damaging	Het
Angpt4	G	T	2: 151,944,646	G508C	probably damaging	Het
Armc8	T	A	9: 99,484,034	H609L	probably benign	Het
Atg2a	T	C	19: 6,255,829		probably null	Het
Bicdl2	C	T	17: 23,667,616	A393V	probably benign	Het
C6	A	T	15: 4,735,251	K143M	possibly damaging	Het
Cfc1	T	A	1: 34,544,102		probably benign	Het
Ctnna3	A	G	10: 64,260,935	I417M	probably benign	Het
Dnhd1	G	A	7: 105,696,728	W2307*	probably null	Het
Dpysl5	T	C	5: 30,792,268	F461L	probably damaging	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Fip1l1	T	C	5: 74,536,785		probably benign	Het
Fpgs	C	T	2: 32,687,501	C219Y	probably damaging	Het
Fsip2	A	G	2: 82,991,206	D5761G	possibly damaging	Het
Hdac4	C	A	1: 91,945,995	G957C	probably damaging	Het
Klhl8	A	G	5: 103,867,567	I421T	probably benign	Het
Kntc1	T	C	5: 123,794,153	C1337R	probably damaging	Het
Lpin3	A	G	2: 160,898,645	N370S	probably benign	Het
Man2a2	C	A	7: 80,351,715	R1148L	probably benign	Het
Nav2	C	T	7: 49,552,037	T1453I	possibly damaging	Het
Nav2	A	G	7: 49,575,263		probably benign	Het
Ndufaf5	T	A	2: 140,170,725	V5D	probably benign	Het
Nipbl	G	C	15: 8,366,658	Q144E	probably damaging	Het
Ntrk2	G	C	13: 59,060,312	Q657H	probably damaging	Het
Olfr1212	G	A	2: 88,959,341	E292K	probably benign	Het
Olfr1248	G	T	2: 89,618,168	T8K	probably damaging	Het
Polr1a	A	G	6: 71,950,848	D861G	probably damaging	Het
Pramef20	A	T	4: 144,372,867	F443I	probably benign	Het
Pwwp2b	T	C	7: 139,255,639	I332T	probably benign	Het
Rasgrf2	T	C	13: 91,983,678	D620G	possibly damaging	Het
Slc14a2	A	G	18: 78,195,747	V219A	probably benign	Het
Slc7a2	T	C	8: 40,902,649	I245T	probably benign	Het
Smok3c	T	A	5: 138,064,604	Y118N	possibly damaging	Het
Taok2	C	T	7: 126,866,521	R367Q	possibly damaging	Het
Tbl1xr1	A	G	3: 22,200,588		probably null	Het
Tbr1	A	T	2: 61,804,838	D44V	possibly damaging	Het
Tespa1	C	T	10: 130,361,957	R283C	probably damaging	Het
Tle2	A	G	10: 81,581,682	E227G	possibly damaging	Het
Vmn1r231	T	C	17: 20,890,456	R66G	possibly damaging	Het
Xab2	T	C	8: 3,616,353	E185G	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
R0226:Afdn	UTSW	17	13899146	missense	probably benign	0.00
R0305:Afdn	UTSW	17	13888514	unclassified	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
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	intron	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
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'- TGGTATGACTCAGAGGTTCTGC -3'
(R):5'- TCTAAAGTTCATGTACTGGCAGGG -3'

Sequencing Primer
(F):5'- ACTCAGAGGTTCTGCTGTGACC -3'
(R):5'- GAATGGAGTACAGCCACTGTCC -3'

Posted On

2015-07-21