Mutagenetix > Incidental Mutation

Incidental Mutation 'R3403:Afdn'

259264

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13980735-14126059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14104176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1156 (R1156C)

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: ENSMUST00000123030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136087

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000137708
AA Change: R1171C

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

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: R1171C

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: R1178C

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

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: R1178C

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: R1171C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: R1171C

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: R1156C

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

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: R1156C

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: R1156C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: R1156C

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

0.6863

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	C	1: 78,673,839 (GRCm39)	V333A	probably damaging	Het
Asic3	A	G	5: 24,621,985 (GRCm39)	E415G	probably damaging	Het
Cactin	G	A	10: 81,161,709 (GRCm39)	R747H	probably benign	Het
Calcr	T	A	6: 3,687,604 (GRCm39)	I465F	probably benign	Het
Dennd4c	C	T	4: 86,692,780 (GRCm39)	P97S	probably damaging	Het
Dnah3	A	G	7: 119,566,879 (GRCm39)	V2449A	probably benign	Het
Dsg1c	A	G	18: 20,403,407 (GRCm39)	N189D	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ndrg3	C	T	2: 156,790,208 (GRCm39)	V92M	probably damaging	Het
Or5ac20	G	C	16: 59,104,475 (GRCm39)	N128K	probably benign	Het
Pacs2	T	C	12: 113,014,570 (GRCm39)	S214P	probably damaging	Het
Rad51	T	A	2: 118,951,025 (GRCm39)		probably benign	Het
Rtn4	T	C	11: 29,657,690 (GRCm39)	S499P	probably benign	Het
Slc6a6	A	G	6: 91,703,110 (GRCm39)	H161R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tmem74	C	T	15: 43,730,417 (GRCm39)	V209M	probably damaging	Het
Unc80	A	T	1: 66,549,845 (GRCm39)	E701V	probably damaging	Het
Upk3a	T	C	15: 84,902,384 (GRCm39)		probably null	Het
Zhx1	T	C	15: 57,917,745 (GRCm39)	E167G	probably benign	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
R2993:Afdn	UTSW	17	14,111,262 (GRCm39)	critical splice donor site	probably null
R3402: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'- ATCGTCGTGGCTCAGGTAAAC -3'
(R):5'- ACCCCTGACACACTTTTGTAGAG -3'

Sequencing Primer
(F):5'- GTGGCTCAGGTAAACCCAGAC -3'
(R):5'- ATGTATACTGAGTCAAGGGTTTTCTC -3'

Posted On

2015-01-23