Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03334:Clca4a'

416956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca4a

Ensembl Gene

ENSMUSG00000068547

Gene Name

chloride channel accessory 4A

Synonyms

Clca6, 9130020L07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

144952480-144975045 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144953866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 743 (M743K)

Ref Sequence

ENSEMBL: ENSMUSP00000029923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029923]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029923
AA Change: M743K

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029923
Gene: ENSMUSG00000068547
AA Change: M743K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
VWA	306	480	5.94e-16	SMART
Blast:VWA	513	552	7e-18	BLAST
Blast:FN3	757	838	8e-33	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136170

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475 (GRCm38)	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023 (GRCm38)	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412 (GRCm38)	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000 (GRCm38)	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484 (GRCm38)	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441 (GRCm38)		probably null	Het
Col14a1	T	C	15: 55,448,821 (GRCm38)		probably benign	Het
Col27a1	A	T	4: 63,314,722 (GRCm38)	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497 (GRCm38)	V125D	possibly damaging	Het
Ercc3	T	C	18: 32,240,837 (GRCm38)		probably null	Het
Fnbp1l	A	G	3: 122,557,949 (GRCm38)	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963 (GRCm38)	R48*	probably null	Het
Golga4	C	T	9: 118,537,233 (GRCm38)		probably benign	Het
Grin1	C	T	2: 25,298,393 (GRCm38)		probably null	Het
Ifi203	T	A	1: 173,937,835 (GRCm38)	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923 (GRCm38)	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122 (GRCm38)	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054 (GRCm38)	S275R	probably benign	Het
Lars1	T	C	18: 42,221,506 (GRCm38)	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194 (GRCm38)	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711 (GRCm38)	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611 (GRCm38)		probably null	Het
Nktr	T	C	9: 121,748,176 (GRCm38)	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016 (GRCm38)	I473N	probably damaging	Het
Or1j10	T	C	2: 36,377,051 (GRCm38)	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729 (GRCm38)	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318 (GRCm38)	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774 (GRCm38)	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077 (GRCm38)	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969 (GRCm38)	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199 (GRCm38)	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665 (GRCm38)		probably benign	Het
Vmn1r218	T	C	13: 23,136,618 (GRCm38)	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494 (GRCm38)	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482 (GRCm38)	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146 (GRCm38)	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355 (GRCm38)	F382I	possibly damaging	Het

Other mutations in Clca4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Clca4a	APN	3	144,954,939 (GRCm38)	missense	probably damaging	0.99
IGL01139:Clca4a	APN	3	144,966,269 (GRCm38)	missense	probably damaging	0.99
IGL01371:Clca4a	APN	3	144,960,672 (GRCm38)	missense	probably damaging	1.00
IGL01609:Clca4a	APN	3	144,953,780 (GRCm38)	missense	probably damaging	1.00
IGL01998:Clca4a	APN	3	144,958,126 (GRCm38)	missense	probably damaging	0.98
IGL02172:Clca4a	APN	3	144,970,394 (GRCm38)	nonsense	probably null
IGL02217:Clca4a	APN	3	144,961,996 (GRCm38)	missense	possibly damaging	0.61
IGL02514:Clca4a	APN	3	144,955,071 (GRCm38)	missense	probably damaging	1.00
IGL02975:Clca4a	APN	3	144,963,769 (GRCm38)	missense	possibly damaging	0.90
IGL03025:Clca4a	APN	3	144,957,318 (GRCm38)	missense	probably benign	0.07
IGL03049:Clca4a	APN	3	144,970,755 (GRCm38)	splice site	probably benign
IGL03058:Clca4a	APN	3	144,961,834 (GRCm38)	splice site	probably benign
IGL03259:Clca4a	APN	3	144,958,080 (GRCm38)	missense	probably damaging	1.00
IGL03263:Clca4a	APN	3	144,966,431 (GRCm38)	missense	probably damaging	1.00
PIT4142001:Clca4a	UTSW	3	144,968,311 (GRCm38)	missense	probably damaging	1.00
R0201:Clca4a	UTSW	3	144,960,717 (GRCm38)	missense	probably benign	0.00
R0316:Clca4a	UTSW	3	144,953,764 (GRCm38)	missense	probably damaging	1.00
R0524:Clca4a	UTSW	3	144,969,393 (GRCm38)	missense	probably damaging	1.00
R0680:Clca4a	UTSW	3	144,969,367 (GRCm38)	missense	probably damaging	1.00
R0688:Clca4a	UTSW	3	144,961,974 (GRCm38)	missense	probably damaging	1.00
R1137:Clca4a	UTSW	3	144,970,685 (GRCm38)	missense	probably damaging	1.00
R1568:Clca4a	UTSW	3	144,952,929 (GRCm38)	missense	probably benign	0.00
R1719:Clca4a	UTSW	3	144,963,755 (GRCm38)	missense	probably damaging	1.00
R2055:Clca4a	UTSW	3	144,970,728 (GRCm38)	missense	probably damaging	1.00
R3078:Clca4a	UTSW	3	144,968,253 (GRCm38)	missense	probably damaging	0.99
R3080:Clca4a	UTSW	3	144,963,790 (GRCm38)	missense	probably damaging	1.00
R3789:Clca4a	UTSW	3	144,974,956 (GRCm38)	missense	probably damaging	1.00
R3881:Clca4a	UTSW	3	144,957,318 (GRCm38)	missense	probably benign	0.07
R4133:Clca4a	UTSW	3	144,969,352 (GRCm38)	missense	probably benign	0.07
R4402:Clca4a	UTSW	3	144,952,848 (GRCm38)	missense	probably benign	0.08
R4455:Clca4a	UTSW	3	144,957,259 (GRCm38)	missense	probably damaging	1.00
R4577:Clca4a	UTSW	3	144,954,969 (GRCm38)	missense	probably damaging	0.97
R4683:Clca4a	UTSW	3	144,954,940 (GRCm38)	missense	probably damaging	1.00
R5135:Clca4a	UTSW	3	144,954,946 (GRCm38)	missense	probably damaging	1.00
R5267:Clca4a	UTSW	3	144,953,812 (GRCm38)	missense	probably damaging	1.00
R5345:Clca4a	UTSW	3	144,970,461 (GRCm38)	missense	probably damaging	1.00
R6311:Clca4a	UTSW	3	144,966,413 (GRCm38)	missense	probably damaging	0.99
R6492:Clca4a	UTSW	3	144,957,298 (GRCm38)	missense	probably benign	0.00
R6493:Clca4a	UTSW	3	144,957,298 (GRCm38)	missense	probably benign	0.00
R6494:Clca4a	UTSW	3	144,957,298 (GRCm38)	missense	probably benign	0.00
R6861:Clca4a	UTSW	3	144,970,655 (GRCm38)	missense	probably benign
R7102:Clca4a	UTSW	3	144,961,909 (GRCm38)	missense	probably benign	0.01
R7133:Clca4a	UTSW	3	144,961,890 (GRCm38)	nonsense	probably null
R7171:Clca4a	UTSW	3	144,958,173 (GRCm38)	missense	probably benign
R7516:Clca4a	UTSW	3	144,966,248 (GRCm38)	missense	probably damaging	1.00
R7642:Clca4a	UTSW	3	144,953,751 (GRCm38)	missense	probably benign	0.11
R7731:Clca4a	UTSW	3	144,952,785 (GRCm38)	missense	probably benign	0.02
R7787:Clca4a	UTSW	3	144,953,833 (GRCm38)	missense	probably benign
R7820:Clca4a	UTSW	3	144,960,671 (GRCm38)	missense	probably damaging	1.00
R7895:Clca4a	UTSW	3	144,968,405 (GRCm38)	missense	probably benign	0.19
R7991:Clca4a	UTSW	3	144,952,739 (GRCm38)	missense	possibly damaging	0.75
R8240:Clca4a	UTSW	3	144,970,727 (GRCm38)	missense	probably damaging	1.00
R9308:Clca4a	UTSW	3	144,970,422 (GRCm38)	missense	probably damaging	1.00
R9373:Clca4a	UTSW	3	144,966,372 (GRCm38)	missense	possibly damaging	0.66
R9488:Clca4a	UTSW	3	144,953,771 (GRCm38)	missense	probably damaging	1.00
R9772:Clca4a	UTSW	3	144,970,661 (GRCm38)	missense	probably damaging	1.00
R9781:Clca4a	UTSW	3	144,961,952 (GRCm38)	missense	probably benign	0.01

Posted On

2016-08-02