Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Clca3b'

50724

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: 0.066) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144823522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 797 (V797D)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.5e-21	SMART
FN3	758	857	5.49e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: V797D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: V797D

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337 (GRCm38)	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335 (GRCm38)	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158 (GRCm38)	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302 (GRCm38)	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411 (GRCm38)		probably null	Het
Asnsd1	G	A	1: 53,348,277 (GRCm38)	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271 (GRCm38)	M76T	probably damaging	Het
Cog2	T	C	8: 124,545,243 (GRCm38)	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938 (GRCm38)	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313 (GRCm38)	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963 (GRCm38)	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527 (GRCm38)	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848 (GRCm38)	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857 (GRCm38)	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390 (GRCm38)	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860 (GRCm38)	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571 (GRCm38)	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779 (GRCm38)	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792 (GRCm38)	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798 (GRCm38)	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363 (GRCm38)		probably null	Het
Olfr338	A	T	2: 36,377,166 (GRCm38)	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887 (GRCm38)	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869 (GRCm38)		probably benign	Het
Plaa	A	G	4: 94,574,047 (GRCm38)	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206 (GRCm38)	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286 (GRCm38)	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697 (GRCm38)	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714 (GRCm38)	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962 (GRCm38)	I1227K	probably damaging	Het
Slc8a1	A	G	17: 81,388,881 (GRCm38)	V896A	probably damaging	Het
Slc8a1	T	C	17: 81,648,281 (GRCm38)	T443A	probably damaging	Het
Taf2	T	C	15: 55,016,581 (GRCm38)	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326 (GRCm38)	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202 (GRCm38)		probably benign	Het
Usp37	G	A	1: 74,493,046 (GRCm38)	R63*	probably null	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144,836,632 (GRCm38)	missense	probably damaging	0.96
IGL00425:Clca3b	APN	3	144,836,581 (GRCm38)	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144,839,162 (GRCm38)	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144,844,628 (GRCm38)	splice site	probably benign
IGL00953:Clca3b	APN	3	144,847,211 (GRCm38)	nonsense	probably null
IGL01376:Clca3b	APN	3	144,826,051 (GRCm38)	missense	possibly damaging	0.60
IGL01996:Clca3b	APN	3	144,849,163 (GRCm38)	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144,841,410 (GRCm38)	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144,841,429 (GRCm38)	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144,828,142 (GRCm38)	splice site	probably benign
IGL02331:Clca3b	APN	3	144,841,406 (GRCm38)	splice site	probably benign
IGL02429:Clca3b	APN	3	144,828,135 (GRCm38)	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144,827,564 (GRCm38)	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144,846,910 (GRCm38)	nonsense	probably null
IGL03331:Clca3b	APN	3	144,827,963 (GRCm38)	missense	probably benign
R0242:Clca3b	UTSW	3	144,841,465 (GRCm38)	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144,841,465 (GRCm38)	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144,822,866 (GRCm38)	unclassified	probably benign
R0524:Clca3b	UTSW	3	144,825,321 (GRCm38)	missense	probably benign
R0637:Clca3b	UTSW	3	144,827,940 (GRCm38)	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144,823,519 (GRCm38)	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144,823,513 (GRCm38)	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144,837,824 (GRCm38)	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144,825,935 (GRCm38)	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144,825,219 (GRCm38)	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144,846,381 (GRCm38)	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144,846,931 (GRCm38)	missense	probably benign	0.01
R2920:Clca3b	UTSW	3	144,837,853 (GRCm38)	missense	probably benign	0.31
R4355:Clca3b	UTSW	3	144,825,458 (GRCm38)	splice site	probably null
R4691:Clca3b	UTSW	3	144,839,092 (GRCm38)	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144,844,512 (GRCm38)	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144,825,270 (GRCm38)	missense	probably benign
R5182:Clca3b	UTSW	3	144,828,015 (GRCm38)	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144,847,171 (GRCm38)	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144,846,459 (GRCm38)	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144,827,309 (GRCm38)	missense	probably damaging	1.00
R5657:Clca3b	UTSW	3	144,827,383 (GRCm38)	missense	probably benign	0.25
R5845:Clca3b	UTSW	3	144,825,316 (GRCm38)	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144,825,259 (GRCm38)	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144,823,384 (GRCm38)	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144,844,527 (GRCm38)	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144,827,972 (GRCm38)	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144,837,758 (GRCm38)	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144,825,920 (GRCm38)	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144,841,420 (GRCm38)	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144,836,656 (GRCm38)	nonsense	probably null
R7403:Clca3b	UTSW	3	144,823,498 (GRCm38)	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144,828,130 (GRCm38)	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144,844,609 (GRCm38)	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144,847,174 (GRCm38)	missense	probably benign	0.13
R8181:Clca3b	UTSW	3	144,839,137 (GRCm38)	missense	probably benign	0.00
R8305:Clca3b	UTSW	3	144,825,937 (GRCm38)	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144,827,397 (GRCm38)	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144,844,594 (GRCm38)	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144,839,137 (GRCm38)	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144,839,111 (GRCm38)	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144,827,311 (GRCm38)	nonsense	probably null
R9455:Clca3b	UTSW	3	144,823,262 (GRCm38)	missense	unknown
R9470:Clca3b	UTSW	3	144,837,695 (GRCm38)	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144,837,814 (GRCm38)	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144,846,849 (GRCm38)	missense	probably benign	0.01

Posted On

2013-06-21