Mutagenetix > Incidental Mutation

Incidental Mutation 'R2238:Clca3a1'

240221

Institutional Source

Beutler Lab

Gene Symbol

Clca3a1

Ensembl Gene

ENSMUSG00000056025

Gene Name

chloride channel accessory 3A1

Synonyms

Clca1

MMRRC Submission

040238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144729677-144760977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144752005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 373 (I373F)

Ref Sequence

ENSEMBL: ENSMUSP00000054526 (fasta)

Gene Model

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

AlphaFold

Q9QX15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029932
AA Change: I373F

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029932
Gene: ENSMUSG00000056025
AA Change: I373F

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: I373F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054526
Gene: ENSMUSG00000056025
AA Change: I373F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196146

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,519,899	V5E	possibly damaging	Het
Acaca	T	C	11: 84,391,505		probably benign	Het
Adam18	T	C	8: 24,646,287	E406G	probably benign	Het
Adgrl4	A	T	3: 151,500,142	I164F	probably damaging	Het
Arhgap36	G	T	X: 49,493,405	V60L	possibly damaging	Het
Bmi1	T	C	2: 18,683,414		probably benign	Het
Carf	T	C	1: 60,148,034	S599P	probably benign	Het
Cdc37	G	A	9: 21,142,533	Q176*	probably null	Het
Clnk	A	G	5: 38,764,351		probably benign	Het
Cnot1	T	C	8: 95,769,521	I342V	probably benign	Het
Dact2	A	T	17: 14,197,050	L296Q	probably damaging	Het
Dctn2	C	T	10: 127,276,388	T123I	probably damaging	Het
Deup1	A	C	9: 15,575,301	I455S	probably damaging	Het
Dnmbp	A	G	19: 43,868,864	V957A	possibly damaging	Het
Emilin2	T	C	17: 71,274,739	R331G	possibly damaging	Het
Eomes	A	G	9: 118,482,291	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602	N518S	probably damaging	Het
Gbf1	T	C	19: 46,163,618	I30T	probably benign	Het
Gcc1	A	G	6: 28,420,463	V285A	probably benign	Het
Gopc	T	C	10: 52,353,403	H188R	probably damaging	Het
Herc6	A	G	6: 57,654,401	N693D	probably benign	Het
Hipk2	A	G	6: 38,729,915		probably benign	Het
Htatsf1	G	T	X: 57,066,504	D642Y	unknown	Het
Ints1	G	A	5: 139,765,200	T814M	possibly damaging	Het
Kdm6a	T	C	X: 18,199,237	F104S	probably damaging	Het
Kdr	T	A	5: 75,949,519	Y936F	possibly damaging	Het
Ly6k	T	C	15: 74,797,169	E87G	probably benign	Het
Lyst	A	G	13: 13,743,263	N3303D	probably benign	Het
Mindy4	T	C	6: 55,301,070	F633S	probably damaging	Het
Msl2	T	A	9: 101,101,370	N314K	probably benign	Het
Ncapd3	A	G	9: 27,067,024	T840A	probably benign	Het
Neil3	T	C	8: 53,599,276	D429G	possibly damaging	Het
Nt5c1b	C	A	12: 10,375,558	T309K	probably damaging	Het
Nt5c1b	A	G	12: 10,390,108	Y550C	probably damaging	Het
Olfr1417	T	C	19: 11,828,450	D192G	probably damaging	Het
Pabpc4l	A	C	3: 46,446,702	V169G	probably damaging	Het
Pcgf5	A	T	19: 36,437,354	N105I	probably damaging	Het
Phka2	A	G	X: 160,541,412	E254G	probably damaging	Het
Pik3cb	A	G	9: 99,041,028	Y984H	probably damaging	Het
Ptprz1	A	T	6: 22,987,377	Q387L	probably damaging	Het
Rassf8	T	C	6: 145,817,184	V419A	probably damaging	Het
Rnf148	T	C	6: 23,654,346	Y217C	probably benign	Het
Sec24d	T	A	3: 123,349,894		probably null	Het
Sesn3	T	C	9: 14,308,465	V50A	probably benign	Het
Sgcd	T	C	11: 47,132,682	N99D	possibly damaging	Het
Sncaip	T	C	18: 52,868,547	S47P	probably damaging	Het
Sp2	C	T	11: 96,955,936	C527Y	probably damaging	Het
Spata4	A	C	8: 54,602,629	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676	I162V	probably damaging	Het
Srcin1	T	C	11: 97,534,819	T471A	probably benign	Het
Stac	G	A	9: 111,690,122		probably benign	Het
Tcaf3	A	G	6: 42,593,328	Y497H	probably benign	Het
Tmem40	C	T	6: 115,731,077	W150*	probably null	Het
Tmem59l	T	C	8: 70,485,122	T203A	probably damaging	Het
Tnfsf11	A	T	14: 78,299,981	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147	T984I	probably benign	Het
Vmn1r204	A	G	13: 22,556,823	H208R	probably benign	Het
Vmn2r98	T	A	17: 19,065,951	M237K	probably damaging	Het

Other mutations in Clca3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Clca3a1	APN	3	144755251	missense	probably damaging	0.96
IGL01331:Clca3a1	APN	3	144747512	missense	probably damaging	1.00
IGL01895:Clca3a1	APN	3	144747572	nonsense	probably null
IGL01940:Clca3a1	APN	3	144746976	missense	probably benign	0.25
IGL02162:Clca3a1	APN	3	144754803	missense	probably damaging	0.98
IGL02200:Clca3a1	APN	3	144751929	splice site	probably benign
IGL03093:Clca3a1	APN	3	144747501	missense	probably damaging	0.99
Lucha	UTSW	3	144749689	missense	probably damaging	1.00
R0256:Clca3a1	UTSW	3	144730879	missense	probably damaging	0.98
R0513:Clca3a1	UTSW	3	144760562	critical splice donor site	probably null
R0543:Clca3a1	UTSW	3	144748394	splice site	probably benign
R1522:Clca3a1	UTSW	3	144755171	missense	probably benign	0.01
R1744:Clca3a1	UTSW	3	144746835	missense	probably damaging	0.99
R1873:Clca3a1	UTSW	3	144746829	missense	probably damaging	0.99
R2278:Clca3a1	UTSW	3	144758024	missense	probably damaging	0.99
R2516:Clca3a1	UTSW	3	144737858	splice site	probably null
R3737:Clca3a1	UTSW	3	144730721	missense	probably benign	0.01
R3981:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3982:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R3983:Clca3a1	UTSW	3	144755309	missense	probably benign	0.00
R4038:Clca3a1	UTSW	3	144755233	missense	probably benign	0.35
R4382:Clca3a1	UTSW	3	144760722	start codon destroyed	probably benign	0.08
R4543:Clca3a1	UTSW	3	144746988	missense	probably damaging	1.00
R4766:Clca3a1	UTSW	3	144749712	missense	probably damaging	1.00
R4899:Clca3a1	UTSW	3	144737961	missense	probably damaging	1.00
R5090:Clca3a1	UTSW	3	144737872	missense	probably benign	0.01
R5091:Clca3a1	UTSW	3	144730722	missense	probably benign	0.00
R5205:Clca3a1	UTSW	3	144746784	missense	possibly damaging	0.68
R5248:Clca3a1	UTSW	3	144737136	missense	possibly damaging	0.62
R5354:Clca3a1	UTSW	3	144737005	missense	possibly damaging	0.77
R5871:Clca3a1	UTSW	3	144754881	missense	probably damaging	1.00
R5907:Clca3a1	UTSW	3	144749642	intron	probably benign
R5976:Clca3a1	UTSW	3	144746875	missense	probably damaging	1.00
R6190:Clca3a1	UTSW	3	144758060	missense	probably benign	0.40
R6193:Clca3a1	UTSW	3	144759232	missense	possibly damaging	0.65
R6263:Clca3a1	UTSW	3	144749778	missense	probably damaging	1.00
R6299:Clca3a1	UTSW	3	144758514	missense	probably damaging	0.99
R6327:Clca3a1	UTSW	3	144730797	missense	probably benign	0.02
R6497:Clca3a1	UTSW	3	144759259	missense	possibly damaging	0.81
R6542:Clca3a1	UTSW	3	144759260	missense	probably benign	0.01
R6547:Clca3a1	UTSW	3	144736947	missense	probably damaging	1.00
R6759:Clca3a1	UTSW	3	144749689	missense	probably damaging	1.00
R7032:Clca3a1	UTSW	3	144747568	missense	probably benign	0.07
R7063:Clca3a1	UTSW	3	144755206	missense	probably damaging	0.97
R7139:Clca3a1	UTSW	3	144755302	missense	possibly damaging	0.58
R7638:Clca3a1	UTSW	3	144751962	missense	probably damaging	1.00
R7663:Clca3a1	UTSW	3	144737036	missense	probably benign	0.02
R7792:Clca3a1	UTSW	3	144749731	missense	possibly damaging	0.95
R7798:Clca3a1	UTSW	3	144757962	missense	probably damaging	1.00
R7892:Clca3a1	UTSW	3	144730818	missense	probably benign	0.00
R8096:Clca3a1	UTSW	3	144749685	missense	probably damaging	1.00
R8305:Clca3a1	UTSW	3	144759166	splice site	probably benign
R8416:Clca3a1	UTSW	3	144755153	critical splice donor site	probably null
R8446:Clca3a1	UTSW	3	144748487	missense	probably damaging	0.97
R8496:Clca3a1	UTSW	3	144747421	makesense	probably null
R9014:Clca3a1	UTSW	3	144736970	missense	probably benign	0.01
R9128:Clca3a1	UTSW	3	144758034	missense	probably damaging	1.00
R9601:Clca3a1	UTSW	3	144747549	missense	probably benign	0.27
Z1088:Clca3a1	UTSW	3	144746953	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGTGAAGCTACTTTCAGAAAGG -3'
(R):5'- AGACCCTGCTATTGTACATGC -3'

Sequencing Primer
(F):5'- AAAGGTTTTTCTCTTTCAGGTCAG -3'
(R):5'- GCATCTTTCTCTTACAGGAAGACCG -3'

Posted On

2014-10-15