Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02411:Clca3a1'

292305

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: 0.060) question?

Stock #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

144435438-144466738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144733763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 58 (T58A)

Ref Sequence

ENSEMBL: ENSMUSP00000029919 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029919
AA Change: T58A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: T58A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,459 (GRCm39)	E65G	probably benign	Het
Abcc8	G	A	7: 45,756,431 (GRCm39)	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,259,407 (GRCm39)		probably null	Het
AI661453	T	G	17: 47,778,263 (GRCm39)		probably benign	Het
Arhgef10	A	T	8: 15,004,819 (GRCm39)	Y445F	probably benign	Het
Atrx	G	T	X: 104,874,587 (GRCm39)	S1924R	possibly damaging	Het
Clec1b	A	G	6: 129,378,804 (GRCm39)	Y97C	probably damaging	Het
Cobll1	A	G	2: 64,928,084 (GRCm39)	S1080P	probably damaging	Het
Crb1	C	A	1: 139,176,213 (GRCm39)	C529F	probably damaging	Het
Crim1	C	T	17: 78,642,763 (GRCm39)	R494*	probably null	Het
Cyp3a25	A	T	5: 145,938,257 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,041,424 (GRCm39)		probably null	Het
Gjb1	T	C	X: 100,428,611 (GRCm39)	C280R	probably damaging	Het
Glp1r	T	A	17: 31,143,485 (GRCm39)	C174S	probably damaging	Het
Gm5414	A	T	15: 101,536,269 (GRCm39)	Y119N	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gm9796	G	T	11: 95,588,756 (GRCm39)		noncoding transcript	Het
Gm9956	T	C	10: 56,621,388 (GRCm39)	F17L	unknown	Het
Il1rap	A	T	16: 26,529,366 (GRCm39)	D396V	probably damaging	Het
Impa1	T	C	3: 10,388,018 (GRCm39)	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,810 (GRCm39)	A685V	probably damaging	Het
Jade3	T	C	X: 20,379,063 (GRCm39)	V512A	probably benign	Het
Kif3a	C	A	11: 53,461,525 (GRCm39)	P57T	probably damaging	Het
Kndc1	G	T	7: 139,501,829 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Maged2	G	T	X: 149,592,755 (GRCm39)	D343E	probably benign	Het
Magi2	T	C	5: 19,883,707 (GRCm39)	S120P	probably damaging	Het
Nxph3	A	T	11: 95,401,656 (GRCm39)	*253R	probably null	Het
Oog2	A	T	4: 143,921,618 (GRCm39)	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,880,764 (GRCm39)	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,582,823 (GRCm39)	L643R	possibly damaging	Het
Plch1	G	T	3: 63,605,177 (GRCm39)		probably null	Het
Poln	G	T	5: 34,270,666 (GRCm39)	S455*	probably null	Het
Ppp2r1a	T	C	17: 21,171,596 (GRCm39)		probably benign	Het
Rsu1	T	G	2: 13,082,308 (GRCm39)		probably benign	Het
Serpina10	A	T	12: 103,583,202 (GRCm39)	M360K	possibly damaging	Het
Sox30	A	T	11: 45,871,951 (GRCm39)	K269*	probably null	Het
Thbs1	T	C	2: 117,945,451 (GRCm39)	V310A	probably benign	Het
Tie1	C	A	4: 118,343,760 (GRCm39)	E61*	probably null	Het
Tm2d1	G	T	4: 98,268,911 (GRCm39)	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,398,826 (GRCm39)	P201Q	probably damaging	Het
Trim13	A	G	14: 61,842,598 (GRCm39)	E205G	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
IGL03093:Clca3a1	APN	3	144,453,262 (GRCm39)	missense	probably damaging	0.99
IGL03156:Clca3a1	APN	3	144,719,672 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16