Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Afdn'

426595

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5421 (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 13832406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 525 (V525A)

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

probably benign
Transcript: ENSMUST00000137708
AA Change: V540A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: V540A

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: V540A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: V540A

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: V540A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: V540A

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: V525A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: V525A

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: V525A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: V525A

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,550,027	Q882L	probably damaging	Het
AI987944	T	C	7: 41,374,776	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,527,407	S31G	probably damaging	Het
Asxl1	T	C	2: 153,399,584	S685P	probably benign	Het
BC005561	A	T	5: 104,518,395	N261I	probably benign	Het
Blnk	C	A	19: 40,968,523	V47F	probably damaging	Het
Bmp4	T	A	14: 46,385,898	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,870,418	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,522,790	P645L	probably benign	Het
Cadm2	A	T	16: 66,771,627	C248*	probably null	Het
Cd163l1	T	C	7: 140,223,900	L337P	probably damaging	Het
Cdk6	T	C	5: 3,473,120	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580	R454S	probably damaging	Het
Dennd3	T	C	15: 73,567,115	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,863,119		probably null	Het
Dnah2	G	A	11: 69,435,636	T3613I	probably damaging	Het
Elp6	A	G	9: 110,314,064	Q115R	probably benign	Het
Enpp1	A	G	10: 24,669,757	Y262H	probably damaging	Het
Far2	A	G	6: 148,146,192		probably null	Het
Flnb	C	T	14: 7,926,494	T1846I	probably damaging	Het
Folr2	C	T	7: 101,840,644	R139H	probably benign	Het
Fxn	A	T	19: 24,277,285		probably null	Het
Galnt13	A	C	2: 54,857,896	N263T	probably damaging	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Htr5a	G	T	5: 27,850,987	W325C	possibly damaging	Het
Itga4	T	A	2: 79,316,041	Y772*	probably null	Het
Kif12	T	C	4: 63,171,428	S59G	probably benign	Het
Kifc3	C	T	8: 95,109,845	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,598,443	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,634,359		probably null	Het
Nek1	A	C	8: 61,006,677	R6S	possibly damaging	Het
Olfr142	G	A	2: 90,252,745	T81I	probably benign	Het
Olfr421-ps1	C	T	1: 174,152,295	R260*	probably null	Het
Olfr493	G	C	7: 108,346,975	A2G	probably benign	Het
Palld	C	T	8: 61,516,550	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 20,956,706	Y169N	probably benign	Het
Rad50	T	C	11: 53,674,946	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,459,367	K915*	probably null	Het
Rasal2	T	C	1: 157,299,141	K109R	probably benign	Het
Rc3h1	G	A	1: 160,951,830		probably null	Het
Rnf6	C	T	5: 146,210,529	V560I	probably benign	Het
Samd8	A	G	14: 21,792,495	D295G	probably damaging	Het
Serpinb2	T	C	1: 107,523,851	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc28a3	A	T	13: 58,574,265	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,224,197	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,374,358	T52S	possibly damaging	Het
Spta1	A	G	1: 174,215,529	N1414D	probably damaging	Het
Sptbn5	A	G	2: 120,080,780		noncoding transcript	Het
Syt9	T	C	7: 107,425,356	V152A	probably benign	Het
Tln1	G	A	4: 43,533,609	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409	M40I	possibly damaging	Het
Ucp1	G	A	8: 83,290,691	A37T	probably benign	Het
Vapa	A	G	17: 65,595,036	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,583,620	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,286,535	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,446,936	T604A	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnk1	A	G	6: 119,952,818	V1246A	probably damaging	Het
Wwc1	T	G	11: 35,876,063	D455A	possibly damaging	Het
Wwc1	C	T	11: 35,910,296	E105K	possibly damaging	Het
Zfp426	G	A	9: 20,470,719	A309V	probably damaging	Het
Zfp626	T	A	7: 27,817,910	N105K	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
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
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'- AGTCTGTGTGCCAAAGTAAATG -3'
(R):5'- AGAAAGTACTAGATTCTGACCTCAG -3'

Sequencing Primer
(F):5'- GAGTACTACCTTGTCAGTTG -3'
(R):5'- TTCTGACCTCAGGACAAAAGG -3'

Posted On

2016-09-01