Mutagenetix > Incidental Mutation

Incidental Mutation 'R1317:Afdn'

157584

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

MMRRC Submission

039383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1317 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13980735-14126059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14066535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 576 (T576A)

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: T591A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: T591A

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: T591A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: T591A

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: T591A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: T591A

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: T576A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: T576A

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: T576A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: T576A

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

0.0701

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.7%
20x: 84.9%

Validation Efficiency

100% (42/42)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Ccdc7b	A	T	8: 129,863,127 (GRCm39)	H223L	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cryba2	G	T	1: 74,929,835 (GRCm39)		probably null	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Ifi209	A	G	1: 173,465,029 (GRCm39)	D53G	possibly damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Jag2	T	A	12: 112,878,121 (GRCm39)	M537L	probably benign	Het
Mid1	A	C	X: 168,769,090 (GRCm39)	N215H	probably damaging	Het
Mt1	T	C	8: 94,906,781 (GRCm39)		probably benign	Het
Myo15b	C	A	11: 115,774,460 (GRCm39)	P2024Q	probably null	Het
Nphs1	C	T	7: 30,181,256 (GRCm39)		probably benign	Het
Rbm27	G	A	18: 42,457,116 (GRCm39)		probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Slc25a23	T	C	17: 57,360,888 (GRCm39)	K179E	possibly damaging	Het
Smad5	T	C	13: 56,883,884 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Tspan32	A	G	7: 142,571,328 (GRCm39)	M159V	probably benign	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Zbtb1	A	G	12: 76,433,573 (GRCm39)	S520G	probably benign	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	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
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
R3403: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'- AACTGATGAGGCTGAGAGGCTGTACTG -3'
(R):5'- TGTCACAGAAACTAACAAGATGGCTGC -3'

Sequencing Primer
(F):5'- AGAGGCTGTACTGCTATGTCAC -3'
(R):5'- CAACAGCAATGGCCTTATGTG -3'

Posted On

2014-02-18