Mutagenetix > Incidental Mutation

Incidental Mutation 'R8181:Clca3b'

634602

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

067605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144528384-144555063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144544898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 363 (N363S)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: N363S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: N363S

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,774,156 (GRCm39)	S1115N	probably damaging	Het
Abca1	A	G	4: 53,059,303 (GRCm39)	V1551A	probably benign	Het
Adam30	T	C	3: 98,070,291 (GRCm39)	I708T	probably benign	Het
Aknad1	T	A	3: 108,659,328 (GRCm39)	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,185,262 (GRCm39)	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,545,881 (GRCm39)	D635E	probably benign	Het
Bax	G	T	7: 45,115,698 (GRCm39)	P23Q	probably null	Het
Bhlha15	A	T	5: 144,128,244 (GRCm39)	N119Y	probably damaging	Het
Boll	T	A	1: 55,402,478 (GRCm39)	M1L	probably benign	Het
C2cd2	A	T	16: 97,693,502 (GRCm39)	I123N	probably benign	Het
Cacnb4	A	C	2: 52,364,997 (GRCm39)	S89A	probably benign	Het
Calca	A	G	7: 114,234,387 (GRCm39)	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899 (GRCm39)	I325M	probably benign	Het
Card14	T	A	11: 119,212,718 (GRCm39)	F94Y	probably damaging	Het
Chil3	A	C	3: 106,057,203 (GRCm39)	I247S	probably damaging	Het
Cnksr3	A	G	10: 7,070,475 (GRCm39)	V494A	possibly damaging	Het
Cog4	A	G	8: 111,578,717 (GRCm39)		probably null	Het
Crybg1	T	A	10: 43,862,322 (GRCm39)	Y1484F	probably damaging	Het
Dglucy	A	G	12: 100,816,370 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,359,380 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,658,140 (GRCm39)	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,279,905 (GRCm39)	I640N	probably damaging	Het
Esp16	G	T	17: 39,850,707 (GRCm39)	E29*	probably null	Het
Fam149a	T	C	8: 45,834,755 (GRCm39)	I15V	possibly damaging	Het
Flt4	T	A	11: 49,525,723 (GRCm39)	I724N	probably damaging	Het
Glb1	C	T	9: 114,259,429 (GRCm39)	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,910,441 (GRCm39)	S41*	probably null	Het
Golgb1	T	A	16: 36,737,192 (GRCm39)	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,597,080 (GRCm39)		probably null	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504 (GRCm39)	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,763,453 (GRCm39)	V56E	probably damaging	Het
Jup	A	T	11: 100,267,751 (GRCm39)	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,205,377 (GRCm39)		probably null	Het
Kif11	A	T	19: 37,379,095 (GRCm39)		probably null	Het
Lars1	A	T	18: 42,361,835 (GRCm39)	W591R	probably damaging	Het
Lrtm1	T	A	14: 28,743,894 (GRCm39)	S121T	probably damaging	Het
Med12l	A	C	3: 59,169,389 (GRCm39)	D1593A	probably damaging	Het
Med17	A	T	9: 15,188,928 (GRCm39)	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,019,866 (GRCm39)	F168I	probably benign	Het
Mmp9	A	T	2: 164,792,365 (GRCm39)	D323V	probably damaging	Het
Mpzl2	C	T	9: 44,961,006 (GRCm39)	T214I	probably benign	Het
Ms4a15	T	C	19: 10,958,670 (GRCm39)	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,580,653 (GRCm39)	I2F	probably damaging	Het
Muc3a	G	A	5: 137,244,535 (GRCm39)	P206S	unknown	Het
Nectin2	C	A	7: 19,458,733 (GRCm39)	L359F	probably damaging	Het
Or2y6	C	A	11: 52,104,096 (GRCm39)	C240F	probably damaging	Het
Or4f53	T	A	2: 111,087,918 (GRCm39)	F153I	probably benign	Het
Pgm2	G	T	5: 64,269,467 (GRCm39)	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,116,114 (GRCm39)	V581A	probably damaging	Het
Prkra	G	C	2: 76,469,634 (GRCm39)	L142V	probably damaging	Het
Prpf38a	G	A	4: 108,434,195 (GRCm39)	T74I	probably benign	Het
Ptprs	T	A	17: 56,736,064 (GRCm39)	N635I	probably damaging	Het
Rxfp2	A	G	5: 149,987,201 (GRCm39)	N361D	probably benign	Het
Ryr3	T	G	2: 112,608,588 (GRCm39)	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,580,190 (GRCm39)	T618S	probably benign	Het
Six6	A	G	12: 72,986,906 (GRCm39)	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,051,047 (GRCm39)	L568P	probably damaging	Het
Slx4ip	T	A	2: 136,842,104 (GRCm39)	C10S	probably damaging	Het
Sox13	G	T	1: 133,311,498 (GRCm39)	T578K	probably benign	Het
Spire2	A	T	8: 124,088,042 (GRCm39)	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,074,808 (GRCm39)	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,204,098 (GRCm39)	T207A	probably benign	Het
Sun2	A	G	15: 79,609,721 (GRCm39)	I708T	probably damaging	Het
Supt5	T	C	7: 28,030,899 (GRCm39)	E44G	unknown	Het
Thsd1	A	G	8: 22,733,022 (GRCm39)	E23G	probably damaging	Het
Ticrr	T	C	7: 79,310,728 (GRCm39)	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,605,324 (GRCm39)	F441L	probably damaging	Het
Zfp30	A	G	7: 29,493,080 (GRCm39)	T526A	probably benign	Het
Zfp518a	G	T	19: 40,902,415 (GRCm39)	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,739,687 (GRCm39)	V434A	probably benign	Het
Zranb1	A	G	7: 132,585,508 (GRCm39)	D652G	probably damaging	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144,542,393 (GRCm39)	missense	probably damaging	0.96
IGL00425:Clca3b	APN	3	144,542,342 (GRCm39)	missense	probably benign	0.14
IGL00725:Clca3b	APN	3	144,544,923 (GRCm39)	missense	probably benign	0.01
IGL00898:Clca3b	APN	3	144,550,389 (GRCm39)	splice site	probably benign
IGL00953:Clca3b	APN	3	144,552,972 (GRCm39)	nonsense	probably null
IGL01089:Clca3b	APN	3	144,529,283 (GRCm39)	missense	probably benign
IGL01376:Clca3b	APN	3	144,531,812 (GRCm39)	missense	possibly damaging	0.60
IGL01996:Clca3b	APN	3	144,554,924 (GRCm39)	missense	probably benign	0.04
IGL02022:Clca3b	APN	3	144,547,171 (GRCm39)	critical splice donor site	probably null
IGL02200:Clca3b	APN	3	144,547,190 (GRCm39)	missense	probably damaging	1.00
IGL02314:Clca3b	APN	3	144,533,903 (GRCm39)	splice site	probably benign
IGL02331:Clca3b	APN	3	144,547,167 (GRCm39)	splice site	probably benign
IGL02429:Clca3b	APN	3	144,533,896 (GRCm39)	missense	probably damaging	1.00
IGL02868:Clca3b	APN	3	144,533,325 (GRCm39)	missense	probably damaging	1.00
IGL03095:Clca3b	APN	3	144,552,671 (GRCm39)	nonsense	probably null
IGL03331:Clca3b	APN	3	144,533,724 (GRCm39)	missense	probably benign
R0242:Clca3b	UTSW	3	144,547,226 (GRCm39)	missense	probably benign	0.00
R0242:Clca3b	UTSW	3	144,547,226 (GRCm39)	missense	probably benign	0.00
R0506:Clca3b	UTSW	3	144,528,627 (GRCm39)	unclassified	probably benign
R0524:Clca3b	UTSW	3	144,531,082 (GRCm39)	missense	probably benign
R0637:Clca3b	UTSW	3	144,533,701 (GRCm39)	missense	probably benign	0.03
R1577:Clca3b	UTSW	3	144,529,280 (GRCm39)	missense	probably damaging	1.00
R1641:Clca3b	UTSW	3	144,529,274 (GRCm39)	missense	possibly damaging	0.53
R1680:Clca3b	UTSW	3	144,543,585 (GRCm39)	missense	probably damaging	1.00
R2240:Clca3b	UTSW	3	144,531,696 (GRCm39)	missense	probably benign	0.22
R2248:Clca3b	UTSW	3	144,530,980 (GRCm39)	missense	probably benign	0.01
R2259:Clca3b	UTSW	3	144,552,142 (GRCm39)	missense	possibly damaging	0.80
R2920:Clca3b	UTSW	3	144,552,692 (GRCm39)	missense	probably benign	0.01
R2920:Clca3b	UTSW	3	144,543,614 (GRCm39)	missense	probably benign	0.31
R4355:Clca3b	UTSW	3	144,531,219 (GRCm39)	splice site	probably null
R4691:Clca3b	UTSW	3	144,544,853 (GRCm39)	missense	probably benign	0.02
R4828:Clca3b	UTSW	3	144,550,273 (GRCm39)	missense	probably benign	0.02
R4845:Clca3b	UTSW	3	144,531,031 (GRCm39)	missense	probably benign
R5182:Clca3b	UTSW	3	144,533,776 (GRCm39)	missense	probably damaging	0.99
R5396:Clca3b	UTSW	3	144,552,932 (GRCm39)	missense	probably damaging	0.99
R5429:Clca3b	UTSW	3	144,552,220 (GRCm39)	missense	probably damaging	1.00
R5572:Clca3b	UTSW	3	144,533,070 (GRCm39)	missense	probably damaging	1.00
R5657:Clca3b	UTSW	3	144,533,144 (GRCm39)	missense	probably benign	0.25
R5845:Clca3b	UTSW	3	144,531,077 (GRCm39)	missense	possibly damaging	0.46
R6505:Clca3b	UTSW	3	144,531,020 (GRCm39)	missense	probably benign	0.18
R6677:Clca3b	UTSW	3	144,529,145 (GRCm39)	missense	probably benign	0.13
R6707:Clca3b	UTSW	3	144,550,288 (GRCm39)	missense	probably benign	0.00
R7001:Clca3b	UTSW	3	144,533,733 (GRCm39)	missense	possibly damaging	0.48
R7285:Clca3b	UTSW	3	144,543,519 (GRCm39)	missense	probably benign	0.00
R7323:Clca3b	UTSW	3	144,531,681 (GRCm39)	missense	possibly damaging	0.60
R7324:Clca3b	UTSW	3	144,547,181 (GRCm39)	missense	possibly damaging	0.81
R7334:Clca3b	UTSW	3	144,542,417 (GRCm39)	nonsense	probably null
R7403:Clca3b	UTSW	3	144,529,259 (GRCm39)	missense	probably benign	0.00
R7798:Clca3b	UTSW	3	144,533,891 (GRCm39)	missense	probably damaging	1.00
R8008:Clca3b	UTSW	3	144,550,370 (GRCm39)	missense	probably benign	0.44
R8132:Clca3b	UTSW	3	144,552,935 (GRCm39)	missense	probably benign	0.13
R8305:Clca3b	UTSW	3	144,531,698 (GRCm39)	missense	probably damaging	1.00
R8546:Clca3b	UTSW	3	144,533,158 (GRCm39)	missense	probably damaging	0.99
R8716:Clca3b	UTSW	3	144,550,355 (GRCm39)	missense	probably benign	0.14
R8804:Clca3b	UTSW	3	144,544,898 (GRCm39)	missense	probably benign	0.00
R8966:Clca3b	UTSW	3	144,544,872 (GRCm39)	missense	probably benign	0.27
R9003:Clca3b	UTSW	3	144,533,072 (GRCm39)	nonsense	probably null
R9455:Clca3b	UTSW	3	144,529,023 (GRCm39)	missense	unknown
R9470:Clca3b	UTSW	3	144,543,456 (GRCm39)	missense	probably damaging	1.00
R9658:Clca3b	UTSW	3	144,543,575 (GRCm39)	missense	probably damaging	0.98
R9760:Clca3b	UTSW	3	144,552,610 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACCCTTGGTGAGAGTTGAAG -3'
(R):5'- TAAAGATACTCCAGAGTTGCTCTC -3'

Sequencing Primer
(F):5'- CCTTGGTGAGAGTTGAAGAAGTCATC -3'
(R):5'- TCCAGAGTTGCTCTCATATATATGC -3'

Posted On

2020-07-13