Mutagenetix > Incidental Mutation

Incidental Mutation 'R5248:Clca3a1'

398622

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

042819-MU

Accession Numbers

Essential gene?

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

Stock #

R5248 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144435438-144466738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144442897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 716 (P716T)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

probably benign
Transcript: ENSMUST00000029932

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025

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: P716T

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: P716T

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,437 (GRCm39)	E344D	probably benign	Het
Acoxl	G	A	2: 127,917,855 (GRCm39)		probably null	Het
Adora1	A	T	1: 134,131,224 (GRCm39)	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,818,501 (GRCm39)	D115E	possibly damaging	Het
Ank3	A	G	10: 69,822,938 (GRCm39)	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,706,539 (GRCm39)	H454R	probably damaging	Het
Ap4e1	C	T	2: 126,906,842 (GRCm39)	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,522,849 (GRCm39)	F328L	probably benign	Het
Bbip1	G	A	19: 53,919,786 (GRCm39)		probably benign	Het
Brsk1	G	A	7: 4,711,865 (GRCm39)	E572K	possibly damaging	Het
Clpx	T	C	9: 65,228,132 (GRCm39)	V380A	probably damaging	Het
Epha3	T	A	16: 63,418,620 (GRCm39)	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,491,089 (GRCm39)	P712T	probably damaging	Het
Itpr1	C	A	6: 108,519,023 (GRCm39)	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,548,735 (GRCm39)	E1080G	probably benign	Het
Macf1	G	A	4: 123,295,567 (GRCm39)	R3163*	probably null	Het
Map4k5	T	C	12: 69,888,755 (GRCm39)	D292G	probably benign	Het
Mau2	A	T	8: 70,481,373 (GRCm39)	C217S	probably benign	Het
Mtf1	T	C	4: 124,714,220 (GRCm39)	F210L	probably damaging	Het
Mtif2	G	A	11: 29,486,889 (GRCm39)	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,694,905 (GRCm39)		probably benign	Het
Mybpc3	C	A	2: 90,955,573 (GRCm39)		probably null	Het
Ncmap	T	C	4: 135,107,430 (GRCm39)		probably null	Het
Nek9	A	G	12: 85,355,751 (GRCm39)	F672S	probably damaging	Het
Nuak1	A	T	10: 84,245,542 (GRCm39)	I101N	probably damaging	Het
Or8s16	T	C	15: 98,211,311 (GRCm39)	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,286,515 (GRCm39)	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,618,939 (GRCm39)	Q243P	probably benign	Het
Pcf11	T	G	7: 92,310,699 (GRCm39)	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,604,769 (GRCm39)	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,900 (GRCm39)	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,542,050 (GRCm39)		probably null	Het
Rhobtb1	A	G	10: 69,084,615 (GRCm39)	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110 (GRCm39)	C110*	probably null	Het
Setx	T	A	2: 29,038,430 (GRCm39)	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,446,437 (GRCm39)	M282L	probably benign	Het
Slc7a1	A	T	5: 148,270,798 (GRCm39)	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,077,407 (GRCm39)	D69V	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tas2r120	A	T	6: 132,634,110 (GRCm39)	N64I	probably damaging	Het
Tcf25	G	T	8: 124,100,678 (GRCm39)	A23S	probably damaging	Het
Tigd2	A	T	6: 59,188,138 (GRCm39)	K335I	probably damaging	Het
Tlr6	A	G	5: 65,112,647 (GRCm39)	S87P	probably benign	Het
Tmem135	T	A	7: 88,797,200 (GRCm39)	Y352F	probably damaging	Het
Tob2	T	C	15: 81,735,918 (GRCm39)	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Vmn1r179	T	C	7: 23,628,478 (GRCm39)	V223A	probably damaging	Het
Zfp946	T	C	17: 22,673,447 (GRCm39)	V67A	probably benign	Het
Zswim4	G	T	8: 84,946,561 (GRCm39)	N698K	probably benign	Het
Zzz3	A	G	3: 152,133,182 (GRCm39)	Q80R	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
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
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'- ATTGTCGAGAACCTTGCCAG -3'
(R):5'- ATAGTTAAGCCAGCTTTCTCCC -3'

Sequencing Primer
(F):5'- GCCGTCCATGTAAGGTGAATATAATC -3'
(R):5'- TGTCAGATCCCCGAGAAGTG -3'

Posted On

2016-07-06