Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Afdn'

162385

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

039448-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13760539-13906150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13846536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 630 (V630A)

Ref Sequence

ENSEMBL: ENSMUSP00000122447 (fasta)

Gene Model

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

AlphaFold

Q9QZQ1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137503

Predicted Effect

probably benign
Transcript: ENSMUST00000137708
AA Change: V645A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: V645A

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: V645A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: V645A

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: V645A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: V645A

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 damaging
Transcript: ENSMUST00000150848
AA Change: V630A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: V630A

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: V630A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: V630A

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,244,255	I235V	probably benign	Het
Acsm4	T	C	7: 119,698,578	I146T	probably benign	Het
Adgrv1	T	C	13: 81,528,865	N1949S	probably benign	Het
Amfr	A	G	8: 93,985,399	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,996,457	M45V	probably benign	Het
Ankrd12	T	C	17: 65,983,380	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,541,229	H193Q	probably damaging	Het
Aplnr	T	C	2: 85,137,461	W277R	possibly damaging	Het
Aspm	A	G	1: 139,457,623	E335G	probably benign	Het
Aspm	C	T	1: 139,478,972	H1866Y	possibly damaging	Het
Atp8b4	T	A	2: 126,378,744	D578V	probably benign	Het
Ccr1	T	A	9: 123,963,962	E177V	probably benign	Het
Cecr2	A	G	6: 120,762,131	E1245G	probably damaging	Het
Cep162	A	T	9: 87,221,202	C638S	probably benign	Het
Ces1b	A	T	8: 93,068,077	I298N	probably benign	Het
Chdh	T	A	14: 30,031,434	L100Q	probably damaging	Het
Chrnd	T	C	1: 87,192,590	I156T	probably damaging	Het
Clpx	G	A	9: 65,326,888	R605Q	probably null	Het
Cnga1	T	A	5: 72,612,183	K135*	probably null	Het
Col6a4	A	T	9: 106,062,945	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,463,568	L53P	probably damaging	Het
Crhr1	T	C	11: 104,174,394	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,851,775		probably null	Het
Cyp21a1	T	A	17: 34,802,210	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Ddah1	A	T	3: 145,889,211	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,194,926	D105G	possibly damaging	Het
Dtl	A	G	1: 191,569,717	V76A	probably damaging	Het
Dzank1	A	G	2: 144,491,831	S361P	probably benign	Het
Ehd3	T	A	17: 73,820,543	I157N	probably damaging	Het
Elk4	T	C	1: 132,017,830	F149L	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam83a	A	G	15: 57,986,503	R148G	probably damaging	Het
Farp2	C	A	1: 93,620,151		probably null	Het
Fbxw25	T	A	9: 109,654,641	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,916,058	D479G	probably damaging	Het
Fgf17	C	A	14: 70,636,770	R193L	probably damaging	Het
Foxred2	T	G	15: 77,948,521		probably null	Het
Gad1	T	C	2: 70,574,123	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,353	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,656,653	V469I	probably benign	Het
Gja1	A	T	10: 56,387,969	E141D	probably benign	Het
Glod4	C	T	11: 76,222,003	W268*	probably null	Het
Gm7173	C	T	X: 79,509,901	V323I	possibly damaging	Het
Guf1	C	T	5: 69,563,162	H309Y	probably benign	Het
Hax1	A	G	3: 89,995,849	V215A	probably damaging	Het
Heatr9	T	C	11: 83,518,825	D107G	probably benign	Het
Hephl1	T	A	9: 15,076,754	Y686F	probably benign	Het
Hk3	T	C	13: 55,007,030		probably null	Het
Ikbkb	G	T	8: 22,665,617	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,531,522	A208V	probably benign	Het
Kif26b	T	C	1: 178,915,644	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383	D147E	probably damaging	Het
Klhl3	T	C	13: 58,030,433	T348A	probably damaging	Het
Krt10	T	C	11: 99,385,920		probably benign	Het
Lama3	A	T	18: 12,477,370	H1124L	probably benign	Het
Lin7a	A	T	10: 107,412,122	Q96L	unknown	Het
Ly6c2	T	G	15: 75,110,589	I37L	probably benign	Het
Mov10l1	A	G	15: 89,011,386	Y585C	possibly damaging	Het
Msr1	G	A	8: 39,589,293	Q414*	probably null	Het
Myh13	T	C	11: 67,370,950	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,133,853	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,681,162	Y530D	probably damaging	Het
Olfr1057	A	G	2: 86,374,921	F164L	probably damaging	Het
Olfr1206	T	A	2: 88,865,353	F249L	probably benign	Het
Olfr1377	T	C	11: 50,985,367	F222S	probably damaging	Het
Olfr1449	A	T	19: 12,935,139	T134S	probably benign	Het
Olfr591	T	A	7: 103,173,367	H90L	probably benign	Het
Olfr868	T	A	9: 20,101,582	N274K	probably benign	Het
Pde10a	T	G	17: 8,953,742	V648G	probably damaging	Het
Pde7b	T	A	10: 20,418,801	H258L	probably damaging	Het
Pik3cb	A	G	9: 99,064,027	V582A	possibly damaging	Het
Plxnb1	T	C	9: 109,101,023	S316P	probably benign	Het
Pmpca	C	T	2: 26,392,518	T246I	probably damaging	Het
Reep3	A	T	10: 67,063,009	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,863,285	M252V	probably damaging	Het
Rnf168	C	A	16: 32,298,963	D447E	probably damaging	Het
Rnf31	T	C	14: 55,596,764	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,613,784	L340*	probably null	Het
Scn2a	A	G	2: 65,688,741	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,902,488	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,247,724	I344F	probably benign	Het
Slc9a2	T	A	1: 40,719,018	L239Q	probably damaging	Het
Smg5	T	C	3: 88,355,671	F794L	probably damaging	Het
Smim13	C	T	13: 41,272,692	S68L	possibly damaging	Het
Sos2	A	T	12: 69,614,658	Y680N	probably damaging	Het
Spag6	T	A	2: 18,734,246	M329K	possibly damaging	Het
Spire2	G	A	8: 123,361,366		probably null	Het
Tdrd9	T	A	12: 112,044,804	V1149D	probably benign	Het
Tns3	T	A	11: 8,518,261	Y321F	probably benign	Het
Top3b	T	C	16: 16,880,629	V112A	probably benign	Het
Trafd1	G	A	5: 121,379,652	T26I	probably damaging	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,915,407	L20S	unknown	Het
Vmn2r82	A	T	10: 79,378,711	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,312	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,051,881		probably null	Het
Vwc2	C	T	11: 11,154,262	P265S	probably damaging	Het
Zbtb9	T	A	17: 26,974,638	I339N	probably damaging	Het
Zfp335	T	C	2: 164,898,241	T764A	probably benign	Het
Zfp366	T	A	13: 99,246,555	V742D	probably damaging	Het
Zfp709	A	T	8: 71,890,662	Y645F	probably damaging	Het
Zmym2	T	A	14: 56,913,091	C424S	probably damaging	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	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
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'- ACTGATACTGCCTGCCAGCATTG -3'
(R):5'- GCTGCACACACCAGAATGCAGATG -3'

Sequencing Primer
(F):5'- TCAGGGAAAGCTGTAAGTGATTTTAG -3'
(R):5'- CTTGTCACCAGATCAGAAGTGTC -3'

Posted On

2014-03-17