Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Clca3b'

240936

Institutional Source

Beutler Lab

Gene Symbol

Clca3b

Ensembl Gene

ENSMUSG00000037033

Gene Name

chloride channel accessory 3B

Synonyms

Clca4

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144822623-144849357 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144825219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 790 (K790R)

Ref Sequence

ENSEMBL: ENSMUSP00000124581 (fasta)

Gene Model

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

AlphaFold

E9PUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000159989
AA Change: K790R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033
AA Change: K790R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,444,114	T482A	probably benign	Het
Abca2	A	G	2: 25,433,464		probably benign	Het
Afp	A	G	5: 90,501,570	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,677,814		probably benign	Het
Aldh1a2	A	T	9: 71,215,862	I6F	possibly damaging	Het
Alg6	C	T	4: 99,738,207	A84V	probably damaging	Het
Ank	T	A	15: 27,562,711		probably null	Het
Ano5	A	T	7: 51,593,789	M837L	probably benign	Het
Arl8b	A	G	6: 108,783,343	Y30C	probably benign	Het
Bfsp1	A	T	2: 143,827,652		probably null	Het
Cdhr1	C	G	14: 37,081,377	V581L	probably benign	Het
Chst8	G	T	7: 34,748,172	T7K	probably damaging	Het
Clta	A	G	4: 44,012,852	N21D	probably damaging	Het
Col6a4	T	G	9: 106,079,959	E222A	probably benign	Het
Dcc	G	T	18: 71,826,168	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,358,293	D140G	possibly damaging	Het
Dthd1	A	T	5: 62,849,900	D648V	probably damaging	Het
Eva1c	A	G	16: 90,831,325	N18S	probably benign	Het
Flnc	A	G	6: 29,451,401	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,196,556	E362G	probably benign	Het
Frk	C	A	10: 34,608,531	T500K	probably benign	Het
Glipr1l1	A	G	10: 112,062,287	E99G	probably benign	Het
Gm6169	C	A	13: 97,098,898	V114F	possibly damaging	Het
Gphn	T	C	12: 78,454,821	L120P	probably damaging	Het
Gpr152	T	C	19: 4,143,806	S449P	probably benign	Het
Greb1	T	A	12: 16,680,378	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,806,471	T89N	probably damaging	Het
Helz2	A	C	2: 181,233,433	I1756S	probably benign	Het
Hydin	G	T	8: 110,578,203	R3825L	probably benign	Het
Ifi207	G	A	1: 173,736,470		probably benign	Het
Itpr3	A	T	17: 27,115,059	E2035V	probably damaging	Het
Khnyn	T	A	14: 55,886,738	S150T	probably benign	Het
Kif21b	T	C	1: 136,172,966	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,203,526	T230S	possibly damaging	Het
Limch1	G	T	5: 67,044,399	G838V	probably damaging	Het
Lrp2	T	A	2: 69,511,010	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,689,901	T153S	possibly damaging	Het
Mal2	T	A	15: 54,588,336	I51N	probably damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,169,859	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,696,227	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,277,572	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,802,861	E289G	possibly damaging	Het
Olfr1141	T	C	2: 87,753,943	I17V	probably null	Het
Olfr1254	C	A	2: 89,789,180	M57I	possibly damaging	Het
Olfr165	A	G	16: 19,407,194	V274A	probably damaging	Het
Plk1	A	G	7: 122,168,821		probably benign	Het
Pms2	G	A	5: 143,916,506	V230M	probably damaging	Het
Pole3	C	A	4: 62,525,013		probably benign	Het
Ppp2r5c	T	C	12: 110,485,923	F22S	probably benign	Het
Ptcd3	A	T	6: 71,894,285		probably null	Het
Ptprq	A	T	10: 107,643,070		probably null	Het
Rab18	T	A	18: 6,788,629	C199S	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Sacs	A	G	14: 61,212,802	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,942,870		probably null	Het
Slco1c1	T	A	6: 141,546,689	I217N	probably damaging	Het
Syne2	C	T	12: 76,096,904	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,151	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,592,649	T107N	probably benign	Het
Trappc6b	T	C	12: 59,050,381	T52A	probably damaging	Het
Tsen54	A	G	11: 115,815,406	E122G	probably damaging	Het
Tspear	A	G	10: 77,873,269	N443S	probably damaging	Het
Unc80	A	G	1: 66,623,206		probably benign	Het
Virma	T	A	4: 11,518,927	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,019,043	D207N	probably benign	Het

Other mutations in Clca3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Clca3b	APN	3	144836632	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTGTATCTTTTGAAGTTTC -3'
(R):5'- TTGTACTGAATCCACCCAGACC -3'

Sequencing Primer
(F):5'- AAGTGAATAGTGGGTTACTG -3'
(R):5'- CACAGAAGCTACAGTGGAAGACTTC -3'

Posted On

2014-10-15