Mutagenetix > Incidental Mutation

Incidental Mutation 'R7063:Clca3a1'

548384

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

045159-MU

Accession Numbers

Essential gene?

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

Stock #

R7063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144435438-144466738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144460967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 228 (D228V)

Ref Sequence

ENSEMBL: ENSMUSP00000029932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029932] [ENSMUST00000059091]

AlphaFold

Q9QX15

Predicted Effect

probably damaging
Transcript: ENSMUST00000029932
AA Change: D228V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: D228V

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	1	262	5.8e-144	PFAM
VWA	306	473	1.81e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059091
AA Change: D228V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: D228V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.44e-23	SMART
Blast:FN3	758	857	2e-44	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Btbd6	A	G	12: 112,941,132 (GRCm39)	Y148C	probably damaging	Het
Casr	T	C	16: 36,314,936 (GRCm39)	I968V	probably benign	Het
Celf1	T	C	2: 90,843,189 (GRCm39)		probably null	Het
Chst2	G	T	9: 95,287,621 (GRCm39)	R242S	probably benign	Het
Cwf19l2	A	G	9: 3,430,532 (GRCm39)	Y288C	probably benign	Het
Cyp2r1	A	G	7: 114,152,184 (GRCm39)	S49P	probably damaging	Het
Dnah5	A	G	15: 28,233,394 (GRCm39)	E251G	probably benign	Het
Eepd1	A	G	9: 25,394,332 (GRCm39)	R199G	possibly damaging	Het
Fat1	C	T	8: 45,493,812 (GRCm39)	T3986I	probably benign	Het
Gbp4	G	A	5: 105,266,314 (GRCm39)	R576C	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Gm6408	T	C	5: 146,420,594 (GRCm39)	I158T	probably benign	Het
Gpr89	C	G	3: 96,783,014 (GRCm39)	R312P	probably damaging	Het
Idh2	A	G	7: 79,745,432 (GRCm39)	V403A	probably damaging	Het
Lclat1	A	G	17: 73,546,986 (GRCm39)	E301G	possibly damaging	Het
Lgmn	A	G	12: 102,368,937 (GRCm39)	Y181H	probably damaging	Het
Lgr5	T	C	10: 115,292,639 (GRCm39)	Y417C	probably damaging	Het
Man1a	G	T	10: 53,906,840 (GRCm39)	N311K	probably damaging	Het
Nat10	G	A	2: 103,578,422 (GRCm39)	L228F	probably benign	Het
Or10d3	T	G	9: 39,461,411 (GRCm39)	Y252S	possibly damaging	Het
Or10v5	A	G	19: 11,805,548 (GRCm39)	F281L	probably damaging	Het
Or5b12b	A	G	19: 12,861,449 (GRCm39)	D68G	probably damaging	Het
Or5p55	C	A	7: 107,567,411 (GRCm39)	A269E	probably benign	Het
Pcmtd2	T	A	2: 181,496,776 (GRCm39)	Y130*	probably null	Het
Potefam3f	G	A	8: 20,479,013 (GRCm39)	C7Y		Het
Qrfprl	A	G	6: 65,418,387 (GRCm39)		probably benign	Het
Rapgef5	A	G	12: 117,652,864 (GRCm39)	D62G	possibly damaging	Het
Serpina3m	A	T	12: 104,357,726 (GRCm39)	I217L	probably benign	Het
Supt16	T	C	14: 52,409,505 (GRCm39)	R802G	possibly damaging	Het
Sypl2	A	T	3: 108,124,971 (GRCm39)	M130K	probably benign	Het
Tmtc2	A	T	10: 105,184,386 (GRCm39)	L503Q	probably damaging	Het
Ubald2	A	G	11: 116,325,443 (GRCm39)	Q60R	probably benign	Het
Vav1	C	T	17: 57,618,860 (GRCm39)	Q673*	probably null	Het
Vgll2	T	C	10: 51,904,072 (GRCm39)	S312P	probably benign	Het
Vmn1r191	C	T	13: 22,362,864 (GRCm39)	A297T	probably benign	Het
Vmn1r7	T	A	6: 57,001,418 (GRCm39)	I281F	possibly damaging	Het
Vmn2r108	T	C	17: 20,701,410 (GRCm39)	Y30C	probably damaging	Het
Vmn2r16	A	G	5: 109,511,650 (GRCm39)	N619S	probably damaging	Het
Vstm5	A	G	9: 15,150,549 (GRCm39)		probably benign	Het
Zfp7	A	G	15: 76,775,919 (GRCm39)	I654V	possibly damaging	Het
Zmat2	A	G	18: 36,929,627 (GRCm39)	N129S	probably null	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
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
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'- TGTCACATGCATCCTGAAGAGG -3'
(R):5'- ATAGCAGTTGCCACAGAGAG -3'

Sequencing Primer
(F):5'- CCTGAAGAGGATTTGTCTCCTGAC -3'
(R):5'- ACGGGCTCTAGGTCCAATAG -3'

Posted On

2019-05-13