Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00090:Clca3b'

1753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL00090

Quality Score

Status

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144836632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 470 (N470D)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159989
AA Change: N470D

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: N470D

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	G	10: 82,283,752	M4475L	probably benign	Het
Abcb5	T	C	12: 118,890,610	T857A	probably benign	Het
Abcc9	A	T	6: 142,633,190		probably benign	Het
Adam11	A	G	11: 102,776,831	T709A	probably benign	Het
Adgre1	A	G	17: 57,450,055	I771V	probably benign	Het
Adgrv1	T	G	13: 81,405,408		probably null	Het
Adgrv1	C	T	13: 81,578,101	D602N	probably damaging	Het
Adra1d	G	T	2: 131,561,677	D164E	possibly damaging	Het
Ago3	A	G	4: 126,371,541	L319P	probably damaging	Het
Aim2	A	G	1: 173,455,465	S38G	probably benign	Het
Apoh	A	G	11: 108,395,834	D28G	probably benign	Het
Atm	C	T	9: 53,524,443	R189K	probably damaging	Het
Bbs1	T	C	19: 4,893,010	T451A	probably benign	Het
BC034090	T	C	1: 155,225,447	D719G	possibly damaging	Het
Bcr	T	C	10: 75,157,071		probably benign	Het
Bmp2	A	T	2: 133,561,027	Q166L	probably benign	Het
Bms1	A	T	6: 118,404,583	S665T	probably benign	Het
Ccser1	A	T	6: 62,380,142	T855S	possibly damaging	Het
Cfap36	C	T	11: 29,222,875	V217M	probably benign	Het
Cort	A	G	4: 149,125,295	F100S	probably damaging	Het
Cyp4f14	G	T	17: 32,914,566	D105E	probably benign	Het
Dnah1	A	G	14: 31,287,873	S1913P	probably benign	Het
Fam91a1	A	T	15: 58,430,735	H308L	probably damaging	Het
Fbn1	A	C	2: 125,324,947	I2016M	probably damaging	Het
Fibcd1	T	A	2: 31,833,874	Q251L	possibly damaging	Het
Flg2	T	A	3: 93,202,109	Y481*	probably null	Het
Ly9	A	T	1: 171,593,451	I624N	probably damaging	Het
Mapt	C	T	11: 104,322,485	S301L	probably damaging	Het
Meiob	G	A	17: 24,823,629	V144I	probably benign	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myo5a	T	A	9: 75,161,497	C660*	probably null	Het
Necab3	G	T	2: 154,547,568		probably benign	Het
Nr2c2ap	A	G	8: 70,132,629	Y93C	probably damaging	Het
Nxpe5	A	G	5: 138,248,834	D356G	probably benign	Het
Olfr1331	T	A	4: 118,869,287	Y168N	probably damaging	Het
Olfr225	A	T	11: 59,613,321	Y119F	possibly damaging	Het
Plce1	A	G	19: 38,745,788	Q1544R	probably damaging	Het
Plppr4	T	A	3: 117,322,220	T605S	probably benign	Het
Poglut1	C	A	16: 38,542,916	W167L	possibly damaging	Het
Pou2f1	G	T	1: 165,902,298	R162S	probably damaging	Het
Ptprf	A	G	4: 118,223,220		probably benign	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Rexo2	A	G	9: 48,474,447	S126P	probably damaging	Het
Robo4	A	G	9: 37,411,104	S844G	probably damaging	Het
Scn7a	A	G	2: 66,683,327		probably benign	Het
Sdc1	A	G	12: 8,790,459	T75A	possibly damaging	Het
Slc38a4	C	T	15: 97,019,809	E12K	probably benign	Het
Tbck	T	C	3: 132,743,093		probably null	Het
Tex2	A	T	11: 106,568,535	V23E	probably damaging	Het
Zfp770	A	G	2: 114,195,932	V552A	probably benign	Het
Zfyve26	T	C	12: 79,249,460		probably benign	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Clca3b	APN	3	144836581	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144839162	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144844628	splice site	probably benign
IGL00953:Clca3b	APN	3	144847211	nonsense	probably null
IGL01089:Clca3b	APN	3	144823522	missense	probably benign
IGL01376:Clca3b	APN	3	144826051	missense	possibly damaging	0.60
IGL01996:Clca3b	APN	3	144849163	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144841410	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144841429	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144828142	splice site	probably benign
IGL02331:Clca3b	APN	3	144841406	splice site	probably benign
IGL02429:Clca3b	APN	3	144828135	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144827564	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144846910	nonsense	probably null
IGL03331:Clca3b	APN	3	144827963	missense	probably benign
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144841465	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144822866	unclassified	probably benign
R0524:Clca3b	UTSW	3	144825321	missense	probably benign
R0637:Clca3b	UTSW	3	144827940	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144823519	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144823513	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144837824	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144825935	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144825219	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144846381	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144837853	missense	probably benign	0.31
R2920:Clca3b	UTSW	3	144846931	missense	probably benign	0.01
R4355:Clca3b	UTSW	3	144825458	splice site	probably null
R4691:Clca3b	UTSW	3	144839092	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144844512	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144825270	missense	probably benign
R5182:Clca3b	UTSW	3	144828015	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144847171	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144846459	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144827309	missense	probably damaging	1.00
R5657:Clca3b	UTSW	3	144827383	missense	probably benign	0.25
R5845:Clca3b	UTSW	3	144825316	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144825259	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144823384	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144844527	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144827972	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144837758	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144825920	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144841420	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144836656	nonsense	probably null
R7403:Clca3b	UTSW	3	144823498	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144828130	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144844609	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144847174	missense	probably benign	0.13
R8181:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8305:Clca3b	UTSW	3	144825937	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144827397	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144844594	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144839137	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144839111	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144827311	nonsense	probably null
R9455:Clca3b	UTSW	3	144823262	missense	unknown
R9470:Clca3b	UTSW	3	144837695	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144837814	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144846849	missense	probably benign	0.01

Posted On

2011-07-12