Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Armc4'

178429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armc4

Ensembl Gene

ENSMUSG00000061802

Gene Name

armadillo repeat containing 4

Synonyms

b2b643Clo, 4930463I21Rik, b2b227.1Clo

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

7088233-7297901 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7222617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 551 (T551A)

Ref Sequence

ENSEMBL: ENSMUSP00000080028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081275]

AlphaFold

B2RY50

Predicted Effect

probably damaging
Transcript: ENSMUST00000081275
AA Change: T551A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080028
Gene: ENSMUSG00000061802
AA Change: T551A

Domain	Start	End	E-Value	Type
low complexity region	172	186	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
ARM	475	516	1.38e1	SMART
ARM	517	557	2.38e-2	SMART
ARM	558	613	3.97e0	SMART
ARM	614	654	2.59e-3	SMART
ARM	655	695	3.48e1	SMART
ARM	696	737	1.6e1	SMART
ARM	738	778	4.09e0	SMART
ARM	779	819	9.68e0	SMART
ARM	861	903	3.52e0	SMART
ARM	904	944	1.26e1	SMART
ARM	945	985	1.03e1	SMART
ARM	986	1026	1.13e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit situs inversus totalis or heterotaxia with congenital heart disease including double outlet right ventricle and ventricular septal defects. Dyskinetic, slow, or immotile airway cilia are also observed. [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
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Armc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Armc4	APN	18	7211504	missense	probably damaging	0.96
IGL00822:Armc4	APN	18	7181817	missense	probably damaging	1.00
IGL01345:Armc4	APN	18	7266947	missense	probably benign	0.00
IGL01593:Armc4	APN	18	7127345	missense	probably benign	0.00
IGL01645:Armc4	APN	18	7268491	missense	probably benign	0.00
IGL01955:Armc4	APN	18	7127291	missense	possibly damaging	0.89
IGL02013:Armc4	APN	18	7265157	splice site	probably benign
IGL02142:Armc4	APN	18	7214601	missense	probably damaging	1.00
IGL02399:Armc4	APN	18	7285719	missense	probably benign
IGL02439:Armc4	APN	18	7268444	missense	probably benign	0.04
IGL02452:Armc4	APN	18	7129461	missense	probably damaging	1.00
IGL02632:Armc4	APN	18	7214727	splice site	probably benign
IGL03344:Armc4	APN	18	7129434	nonsense	probably null
R0062:Armc4	UTSW	18	7129593	splice site	probably benign
R0062:Armc4	UTSW	18	7129593	splice site	probably benign
R0242:Armc4	UTSW	18	7211516	missense	probably damaging	0.96
R0242:Armc4	UTSW	18	7211516	missense	probably damaging	0.96
R0365:Armc4	UTSW	18	7217800	missense	probably benign	0.01
R0377:Armc4	UTSW	18	7127415	missense	probably benign	0.04
R0466:Armc4	UTSW	18	7286758	missense	probably benign	0.10
R0517:Armc4	UTSW	18	7223621	missense	probably damaging	1.00
R0521:Armc4	UTSW	18	7222676	missense	possibly damaging	0.64
R0841:Armc4	UTSW	18	7268436	missense	probably damaging	0.99
R1145:Armc4	UTSW	18	7268436	missense	probably damaging	0.99
R1145:Armc4	UTSW	18	7268436	missense	probably damaging	0.99
R1435:Armc4	UTSW	18	7222646	missense	probably benign	0.01
R1487:Armc4	UTSW	18	7273245	missense	probably damaging	0.98
R1634:Armc4	UTSW	18	7286688	missense	probably damaging	0.99
R1677:Armc4	UTSW	18	7222554	missense	probably benign	0.01
R1778:Armc4	UTSW	18	7127388	missense	probably damaging	1.00
R1792:Armc4	UTSW	18	7286743	missense	probably benign	0.00
R1809:Armc4	UTSW	18	7211630	missense	probably benign	0.08
R1842:Armc4	UTSW	18	7223551	missense	probably benign	0.04
R2144:Armc4	UTSW	18	7127229	missense	probably damaging	0.96
R2206:Armc4	UTSW	18	7223676	missense	probably benign	0.25
R2273:Armc4	UTSW	18	7223676	missense	probably benign	0.25
R2275:Armc4	UTSW	18	7223676	missense	probably benign	0.25
R2918:Armc4	UTSW	18	7222625	missense	probably benign	0.04
R3421:Armc4	UTSW	18	7223523	splice site	probably benign
R3422:Armc4	UTSW	18	7223523	splice site	probably benign
R4165:Armc4	UTSW	18	7217008	missense	probably damaging	1.00
R4225:Armc4	UTSW	18	7181732	critical splice donor site	probably null
R4660:Armc4	UTSW	18	7211609	missense	possibly damaging	0.88
R4745:Armc4	UTSW	18	7286763	missense	probably benign	0.28
R4812:Armc4	UTSW	18	7288634	missense	possibly damaging	0.79
R4831:Armc4	UTSW	18	7222564	missense	possibly damaging	0.79
R4923:Armc4	UTSW	18	7181787	missense	probably damaging	0.97
R4995:Armc4	UTSW	18	7223663	missense	probably damaging	1.00
R5024:Armc4	UTSW	18	7088555	missense	probably benign	0.02
R5335:Armc4	UTSW	18	7294566	missense	probably benign	0.06
R5434:Armc4	UTSW	18	7222550	missense	probably benign	0.03
R5552:Armc4	UTSW	18	7285360	missense	possibly damaging	0.51
R5719:Armc4	UTSW	18	7211496	missense	probably benign	0.00
R5736:Armc4	UTSW	18	7268416	missense	probably benign	0.01
R5792:Armc4	UTSW	18	7217965	missense	probably benign	0.00
R5848:Armc4	UTSW	18	7268507	splice site	probably null
R5957:Armc4	UTSW	18	7285706	missense	probably benign	0.01
R6001:Armc4	UTSW	18	7286838	missense	probably benign	0.03
R6309:Armc4	UTSW	18	7214617	missense	probably benign	0.04
R6559:Armc4	UTSW	18	7223664	missense	probably damaging	0.99
R6574:Armc4	UTSW	18	7129394	splice site	probably null
R6581:Armc4	UTSW	18	7129560	missense	possibly damaging	0.77
R6736:Armc4	UTSW	18	7223586	missense	probably damaging	0.98
R6842:Armc4	UTSW	18	7268401	missense	probably benign	0.00
R6968:Armc4	UTSW	18	7273155	splice site	probably null
R6974:Armc4	UTSW	18	7294479	missense	probably benign	0.37
R7024:Armc4	UTSW	18	7211593	missense	probably benign	0.43
R7299:Armc4	UTSW	18	7222635	missense	probably damaging	1.00
R7578:Armc4	UTSW	18	7211593	missense	probably benign	0.43
R7737:Armc4	UTSW	18	7217890	missense	probably damaging	1.00
R7878:Armc4	UTSW	18	7217801	missense	probably benign	0.01
R8025:Armc4	UTSW	18	7127224	missense	probably benign	0.43
R8151:Armc4	UTSW	18	7127358	missense	probably damaging	1.00
R8989:Armc4	UTSW	18	7268464	missense	probably benign	0.24
R8998:Armc4	UTSW	18	7211574	missense	possibly damaging	0.79
R8999:Armc4	UTSW	18	7211574	missense	possibly damaging	0.79
R9006:Armc4	UTSW	18	7294516	missense	probably benign	0.00
R9091:Armc4	UTSW	18	7217846	nonsense	probably null
R9106:Armc4	UTSW	18	7294527	missense	probably benign	0.18
R9153:Armc4	UTSW	18	7286733	missense	possibly damaging	0.81
R9229:Armc4	UTSW	18	7127324	missense	possibly damaging	0.53
R9254:Armc4	UTSW	18	7265089	missense	possibly damaging	0.94
R9270:Armc4	UTSW	18	7217846	nonsense	probably null
R9379:Armc4	UTSW	18	7265089	missense	possibly damaging	0.94
Z1088:Armc4	UTSW	18	7266919	missense	probably benign
Z1176:Armc4	UTSW	18	7129487	missense	probably damaging	1.00
Z1176:Armc4	UTSW	18	7216973	nonsense	probably null

Posted On

2014-05-07