Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03156:Clca3a1'

411287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

144435438-144466738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144719672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 433 (I433F)

Ref Sequence

ENSEMBL: ENSMUSP00000029919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029919]

AlphaFold

Q9QX15

Predicted Effect

probably damaging
Transcript: ENSMUST00000029919
AA Change: I433F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: I433F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
VWA	305	478	5.05e-19	SMART
Blast:FN3	753	852	2e-28	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198832

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,023,074 (GRCm39)	I70T	possibly damaging	Het
Acot11	A	G	4: 106,611,333 (GRCm39)	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,197,544 (GRCm39)	V947A	probably benign	Het
Ccdc159	G	T	9: 21,840,771 (GRCm39)	V113L	probably benign	Het
Cep350	T	C	1: 155,733,788 (GRCm39)	D3035G	probably damaging	Het
Cntn5	T	C	9: 9,673,882 (GRCm39)	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,518,462 (GRCm39)		probably benign	Het
Des	G	A	1: 75,339,640 (GRCm39)	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,644,983 (GRCm39)	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,266,495 (GRCm39)	A54S	probably damaging	Het
Gm7276	C	T	18: 77,273,299 (GRCm39)		probably benign	Het
Hsbp1l1	A	G	18: 80,278,734 (GRCm39)		probably benign	Het
Iars1	G	A	13: 49,856,655 (GRCm39)	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,537,528 (GRCm39)	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,512,023 (GRCm39)	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,118,929 (GRCm39)	I31N	probably damaging	Het
Ms4a20	A	T	19: 11,083,114 (GRCm39)	I102K	possibly damaging	Het
Obscn	T	C	11: 58,945,722 (GRCm39)	Y4163C	probably damaging	Het
Or5p6	T	A	7: 107,631,558 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,280,070 (GRCm39)	T632A	probably benign	Het
Potefam1	T	C	2: 111,030,757 (GRCm39)	D12G	possibly damaging	Het
Ppp1r15a	A	G	7: 45,174,595 (GRCm39)	L71P	possibly damaging	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,848,821 (GRCm39)	R908S	probably damaging	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Sap30l	T	C	11: 57,696,994 (GRCm39)		probably null	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Serpina12	T	C	12: 104,004,158 (GRCm39)	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,148,286 (GRCm39)	D148E	probably damaging	Het
Trmt13	T	C	3: 116,379,451 (GRCm39)	D232G	probably benign	Het
Zan	T	A	5: 137,462,201 (GRCm39)	T993S	unknown	Het
Zfp236	G	A	18: 82,698,827 (GRCm39)	L85F	probably damaging	Het
Zfp352	G	A	4: 90,112,324 (GRCm39)	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,355,834 (GRCm39)		probably benign	Het
Zmiz2	T	C	11: 6,349,536 (GRCm39)	F399L	probably damaging	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00664:Clca3a1	APN	3	144,733,660 (GRCm39)	missense	probably benign	0.01
IGL00768:Clca3a1	APN	3	144,461,012 (GRCm39)	missense	probably damaging	0.96
IGL00862:Clca3a1	APN	3	144,730,332 (GRCm39)	missense	possibly damaging	0.89
IGL00895:Clca3a1	APN	3	144,730,357 (GRCm39)	missense	probably damaging	1.00
IGL00969:Clca3a1	APN	3	144,714,719 (GRCm39)	missense	possibly damaging	0.80
IGL01331:Clca3a1	APN	3	144,453,273 (GRCm39)	missense	probably damaging	1.00
IGL01398:Clca3a1	APN	3	144,722,512 (GRCm39)	missense	possibly damaging	0.81
IGL01447:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01455:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01457:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01458:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01462:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01473:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01488:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01490:Clca3a1	APN	3	144,713,539 (GRCm39)	missense	probably benign	0.00
IGL01632:Clca3a1	APN	3	144,733,202 (GRCm39)	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144,453,333 (GRCm39)	nonsense	probably null
IGL01896:Clca3a1	APN	3	144,721,438 (GRCm39)	missense	possibly damaging	0.79
IGL01940:Clca3a1	APN	3	144,452,737 (GRCm39)	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144,460,564 (GRCm39)	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144,457,690 (GRCm39)	splice site	probably benign
IGL02411:Clca3a1	APN	3	144,733,763 (GRCm39)	missense	possibly damaging	0.89
IGL03093:Clca3a1	APN	3	144,453,262 (GRCm39)	missense	probably damaging	0.99
Lucha	UTSW	3	144,455,450 (GRCm39)	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144,436,640 (GRCm39)	missense	probably damaging	0.98
R0472:Clca3a1	UTSW	3	144,733,106 (GRCm39)	missense	probably damaging	1.00
R0513:Clca3a1	UTSW	3	144,466,323 (GRCm39)	critical splice donor site	probably null
R0543:Clca3a1	UTSW	3	144,454,155 (GRCm39)	splice site	probably benign
R0571:Clca3a1	UTSW	3	144,713,550 (GRCm39)	missense	probably damaging	1.00
R0585:Clca3a1	UTSW	3	144,738,386 (GRCm39)	missense	probably benign	0.16
R0586:Clca3a1	UTSW	3	144,738,350 (GRCm39)	missense	probably benign	0.45
R0791:Clca3a1	UTSW	3	144,710,615 (GRCm39)	missense	probably benign	0.01
R1187:Clca3a1	UTSW	3	144,715,504 (GRCm39)	missense	probably benign	0.30
R1522:Clca3a1	UTSW	3	144,460,932 (GRCm39)	missense	probably benign	0.01
R1713:Clca3a1	UTSW	3	144,730,307 (GRCm39)	missense	probably benign	0.00
R1739:Clca3a1	UTSW	3	144,713,539 (GRCm39)	missense	probably benign	0.00
R1744:Clca3a1	UTSW	3	144,452,596 (GRCm39)	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144,452,590 (GRCm39)	missense	probably damaging	0.99
R2079:Clca3a1	UTSW	3	144,713,534 (GRCm39)	missense	possibly damaging	0.80
R2129:Clca3a1	UTSW	3	144,722,526 (GRCm39)	missense	probably damaging	1.00
R2178:Clca3a1	UTSW	3	144,711,863 (GRCm39)	missense	probably damaging	1.00
R2234:Clca3a1	UTSW	3	144,714,829 (GRCm39)	missense	possibly damaging	0.93
R2235:Clca3a1	UTSW	3	144,714,829 (GRCm39)	missense	possibly damaging	0.93
R2238:Clca3a1	UTSW	3	144,457,766 (GRCm39)	missense	possibly damaging	0.94
R2240:Clca3a1	UTSW	3	144,714,746 (GRCm39)	missense	probably damaging	1.00
R2278:Clca3a1	UTSW	3	144,463,785 (GRCm39)	missense	probably damaging	0.99
R2516:Clca3a1	UTSW	3	144,443,619 (GRCm39)	splice site	probably null
R3737:Clca3a1	UTSW	3	144,436,482 (GRCm39)	missense	probably benign	0.01
R3751:Clca3a1	UTSW	3	144,724,424 (GRCm39)	missense	probably benign	0.01
R3974:Clca3a1	UTSW	3	144,738,400 (GRCm39)	missense	probably damaging	1.00
R3975:Clca3a1	UTSW	3	144,738,400 (GRCm39)	missense	probably damaging	1.00
R3981:Clca3a1	UTSW	3	144,461,070 (GRCm39)	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144,461,070 (GRCm39)	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144,461,070 (GRCm39)	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144,460,994 (GRCm39)	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144,466,483 (GRCm39)	start codon destroyed	probably benign	0.08
R4409:Clca3a1	UTSW	3	144,711,788 (GRCm39)	missense	probably damaging	1.00
R4543:Clca3a1	UTSW	3	144,452,749 (GRCm39)	missense	probably damaging	1.00
R4586:Clca3a1	UTSW	3	144,722,619 (GRCm39)	missense	probably damaging	1.00
R4751:Clca3a1	UTSW	3	144,710,609 (GRCm39)	missense	possibly damaging	0.89
R4766:Clca3a1	UTSW	3	144,455,473 (GRCm39)	missense	probably damaging	1.00
R4894:Clca3a1	UTSW	3	144,719,662 (GRCm39)	missense	probably damaging	0.99
R4899:Clca3a1	UTSW	3	144,443,722 (GRCm39)	missense	probably damaging	1.00
R4909:Clca3a1	UTSW	3	144,730,324 (GRCm39)	missense	probably damaging	1.00
R4916:Clca3a1	UTSW	3	144,721,605 (GRCm39)	missense	probably benign	0.01
R4941:Clca3a1	UTSW	3	144,721,414 (GRCm39)	missense	probably damaging	1.00
R4942:Clca3a1	UTSW	3	144,710,524 (GRCm39)	missense	probably benign	0.02
R5044:Clca3a1	UTSW	3	144,713,689 (GRCm39)	splice site	probably null
R5090:Clca3a1	UTSW	3	144,443,633 (GRCm39)	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144,436,483 (GRCm39)	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144,452,545 (GRCm39)	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144,442,897 (GRCm39)	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144,442,766 (GRCm39)	missense	possibly damaging	0.77
R5451:Clca3a1	UTSW	3	144,733,747 (GRCm39)	missense	probably damaging	1.00
R5618:Clca3a1	UTSW	3	144,710,738 (GRCm39)	missense	probably benign	0.00
R5724:Clca3a1	UTSW	3	144,714,833 (GRCm39)	missense	probably benign	0.01
R5871:Clca3a1	UTSW	3	144,460,642 (GRCm39)	missense	probably damaging	1.00
R5898:Clca3a1	UTSW	3	144,722,522 (GRCm39)	missense	possibly damaging	0.89
R5907:Clca3a1	UTSW	3	144,455,403 (GRCm39)	intron	probably benign
R5976:Clca3a1	UTSW	3	144,452,636 (GRCm39)	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144,463,821 (GRCm39)	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144,464,993 (GRCm39)	missense	possibly damaging	0.65
R6238:Clca3a1	UTSW	3	144,714,716 (GRCm39)	missense	probably benign	0.09
R6263:Clca3a1	UTSW	3	144,455,539 (GRCm39)	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144,464,275 (GRCm39)	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144,436,558 (GRCm39)	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144,465,020 (GRCm39)	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144,465,021 (GRCm39)	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144,442,708 (GRCm39)	missense	probably damaging	1.00
R6590:Clca3a1	UTSW	3	144,719,644 (GRCm39)	missense	probably damaging	1.00
R6591:Clca3a1	UTSW	3	144,719,644 (GRCm39)	missense	probably damaging	1.00
R6592:Clca3a1	UTSW	3	144,719,644 (GRCm39)	missense	probably damaging	1.00
R6690:Clca3a1	UTSW	3	144,719,644 (GRCm39)	missense	probably damaging	1.00
R6691:Clca3a1	UTSW	3	144,719,644 (GRCm39)	missense	probably damaging	1.00
R6729:Clca3a1	UTSW	3	144,711,727 (GRCm39)	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144,455,450 (GRCm39)	missense	probably damaging	1.00
R6805:Clca3a1	UTSW	3	144,724,428 (GRCm39)	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144,453,329 (GRCm39)	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144,460,967 (GRCm39)	missense	probably damaging	0.97
R7106:Clca3a1	UTSW	3	144,733,190 (GRCm39)	missense	probably damaging	0.98
R7121:Clca3a1	UTSW	3	144,717,567 (GRCm39)	missense	probably damaging	1.00
R7127:Clca3a1	UTSW	3	144,711,806 (GRCm39)	missense	probably damaging	1.00
R7139:Clca3a1	UTSW	3	144,461,063 (GRCm39)	missense	possibly damaging	0.58
R7212:Clca3a1	UTSW	3	144,711,727 (GRCm39)	missense	probably damaging	1.00
R7444:Clca3a1	UTSW	3	144,733,193 (GRCm39)	missense	probably damaging	1.00
R7446:Clca3a1	UTSW	3	144,733,188 (GRCm39)	missense	possibly damaging	0.65
R7535:Clca3a1	UTSW	3	144,724,328 (GRCm39)	missense	probably damaging	0.99
R7638:Clca3a1	UTSW	3	144,457,723 (GRCm39)	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144,442,797 (GRCm39)	missense	probably benign	0.02
R7792:Clca3a1	UTSW	3	144,455,492 (GRCm39)	missense	possibly damaging	0.95
R7798:Clca3a1	UTSW	3	144,463,723 (GRCm39)	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144,436,579 (GRCm39)	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144,455,446 (GRCm39)	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144,464,927 (GRCm39)	splice site	probably benign
R8416:Clca3a1	UTSW	3	144,460,914 (GRCm39)	critical splice donor site	probably null
R8437:Clca3a1	UTSW	3	144,710,822 (GRCm39)	missense	probably benign	0.00
R8446:Clca3a1	UTSW	3	144,454,248 (GRCm39)	missense	probably damaging	0.97
R8474:Clca3a1	UTSW	3	144,710,792 (GRCm39)	missense	possibly damaging	0.77
R8496:Clca3a1	UTSW	3	144,453,182 (GRCm39)	makesense	probably null
R8766:Clca3a1	UTSW	3	144,714,939 (GRCm39)	splice site	probably benign
R8884:Clca3a1	UTSW	3	144,719,757 (GRCm39)	missense	probably benign	0.35
R9014:Clca3a1	UTSW	3	144,442,731 (GRCm39)	missense	probably benign	0.01
R9049:Clca3a1	UTSW	3	144,733,143 (GRCm39)	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144,463,795 (GRCm39)	missense	probably damaging	1.00
R9306:Clca3a1	UTSW	3	144,730,339 (GRCm39)	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144,453,310 (GRCm39)	missense	probably benign	0.27
R9623:Clca3a1	UTSW	3	144,719,698 (GRCm39)	missense	probably benign	0.03
X0020:Clca3a1	UTSW	3	144,738,421 (GRCm39)	missense	possibly damaging	0.89
Z1088:Clca3a1	UTSW	3	144,452,714 (GRCm39)	missense	probably damaging	1.00
Z1176:Clca3a1	UTSW	3	144,719,682 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02