Mutagenetix > Incidental Mutation

Incidental Mutation 'R0585:Clca3a1'

55703

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

038775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0585 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

144435438-144466738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144738386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 41 (H41N)

Ref Sequence

ENSEMBL: ENSMUSP00000029919 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029919
AA Change: H41N

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029919
Gene: ENSMUSG00000028255
AA Change: H41N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brdt	T	G	5: 107,504,748 (GRCm39)		probably null	Het
Ccdc162	C	T	10: 41,462,375 (GRCm39)	C1474Y	probably benign	Het
Ces2e	T	C	8: 105,656,453 (GRCm39)	S228P	probably damaging	Het
Cyp2c39	A	T	19: 39,525,203 (GRCm39)	I169F	probably benign	Het
Cyp2c65	A	G	19: 39,057,686 (GRCm39)	K107R	probably benign	Het
Cyp2c67	T	A	19: 39,627,138 (GRCm39)	N231Y	possibly damaging	Het
Eps8l3	G	C	3: 107,788,513 (GRCm39)	D33H	probably damaging	Het
Evi5	T	C	5: 107,961,402 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Gm3993	T	A	12: 20,122,149 (GRCm39)		probably null	Het
Gtf2ird1	A	C	5: 134,405,796 (GRCm39)	L28R	probably damaging	Het
Hsf4	A	G	8: 105,997,663 (GRCm39)	D75G	probably damaging	Het
Iqca1l	A	G	5: 24,755,721 (GRCm39)	V267A	probably benign	Het
Larp4b	A	G	13: 9,197,529 (GRCm39)	T249A	probably damaging	Het
Larp4b	A	G	13: 9,220,737 (GRCm39)	D578G	probably benign	Het
Lyz3	T	A	10: 117,074,356 (GRCm39)	I44F	possibly damaging	Het
Matn3	A	T	12: 9,011,103 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,736,541 (GRCm39)	Y428N	probably damaging	Het
Nf1	T	A	11: 79,459,527 (GRCm39)	D661E	probably damaging	Het
Nktr	A	G	9: 121,583,346 (GRCm39)		probably benign	Het
Npbwr1	G	A	1: 5,986,677 (GRCm39)	T279I	possibly damaging	Het
Or52n3	A	C	7: 104,530,706 (GRCm39)	H264P	probably damaging	Het
Osmr	T	C	15: 6,867,274 (GRCm39)	I341V	probably benign	Het
Pan2	T	C	10: 128,146,384 (GRCm39)		probably null	Het
Pknox2	G	A	9: 36,821,056 (GRCm39)		probably benign	Het
Pla2g2d	A	C	4: 138,506,704 (GRCm39)	D50A	probably benign	Het
Ptprk	C	T	10: 28,451,664 (GRCm39)	L1051F	probably damaging	Het
Rap1gds1	G	A	3: 138,727,633 (GRCm39)	T59M	probably benign	Het
Rps5	T	C	7: 12,659,332 (GRCm39)	V41A	possibly damaging	Het
Ryr1	G	T	7: 28,735,501 (GRCm39)	D4092E	probably damaging	Het
Spic	T	C	10: 88,511,905 (GRCm39)	Y117C	probably damaging	Het
Thrap3	A	T	4: 126,072,367 (GRCm39)		probably null	Het
Tlr9	C	T	9: 106,102,275 (GRCm39)	T522I	probably benign	Het
Tspan3	A	T	9: 56,053,216 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,703,503 (GRCm39)		probably benign	Het
Zfp773	T	A	7: 7,135,574 (GRCm39)	I341L	probably benign	Het
Zmat3	G	A	3: 32,415,254 (GRCm39)	P19S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCAGCCAAGCAACTGAAGC -3'
(R):5'- AGGAACCAGATTAGGATCTCCCACC -3'

Sequencing Primer
(F):5'- CTGAAGCAAGACGAATCATGTTCTC -3'
(R):5'- TGCTCAAACACCTGGTGC -3'

Posted On

2013-07-11