Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Afdn'

557608

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13760539-13906150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13888946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1592 (M1592K)

Ref Sequence

ENSEMBL: ENSMUSP00000118318 (fasta)

Gene Model

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

AlphaFold

Q9QZQ1

PDB Structure

Solution structure of the FHA domain of mouse Afadin 6 [SOLUTION NMR]
Solution Structure of Ras-binding Domain in Mouse AF-6 Protein [SOLUTION NMR]
Crystal structure of afadin PDZ domain in complex with the C-terminal peptide from nectin-3 [X-RAY DIFFRACTION]

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: M139K

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

possibly damaging
Transcript: ENSMUST00000137708
AA Change: M1592K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: M1592K

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

possibly damaging
Transcript: ENSMUST00000137784
AA Change: M1599K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: M1599K

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

possibly damaging
Transcript: ENSMUST00000139666
AA Change: M1592K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: M1592K

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: M1577K

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: M1577K

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

possibly damaging
Transcript: ENSMUST00000170827
AA Change: M1577K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: M1577K

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

0.5103

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	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	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
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'- AGACCCCTGGAAACGAGATG -3'
(R):5'- CAAGTTGTCAGCCAAGAGTGAG -3'

Sequencing Primer
(F):5'- TGCACATTGTGGACATGCTAAGC -3'
(R):5'- GCAAAAGAAACCAGGGGTCTTTAAAC -3'

Posted On

2019-06-26