Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Gjb5'

360724

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gjb5

Ensembl Gene

ENSMUSG00000042357

Gene Name

gap junction protein, beta 5

Synonyms

Cnx31.1, Cx31.1, Gjb-5, connexin 31.1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

127248600-127251957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127249355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 263 (R263Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]

AlphaFold

Q02739

Predicted Effect

probably benign
Transcript: ENSMUST00000046498
AA Change: R263Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: R263Q

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
CNX	42	75	1.99e-19	SMART
Connexin_CCC	139	206	1.42e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060419

SMART Domains

Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106090

SMART Domains

Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
CNX	42	75	9.16e-19	SMART
low complexity region	98	103	N/A	INTRINSIC
Connexin_CCC	141	208	6.28e-35	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,021,033 (GRCm39)	S130P	probably damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Myl3	G	T	9: 110,597,059 (GRCm39)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or13a26	T	C	7: 140,285,046 (GRCm39)	L294P	probably damaging	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,339,588 (GRCm39)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly damaging	Het

Other mutations in Gjb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03376:Gjb5	APN	4	127,250,048 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Gjb5	UTSW	4	127,250,033 (GRCm39)	missense	probably damaging	0.99
R2090:Gjb5	UTSW	4	127,249,794 (GRCm39)	missense	probably benign	0.01
R2197:Gjb5	UTSW	4	127,250,063 (GRCm39)	splice site	probably null
R4968:Gjb5	UTSW	4	127,250,015 (GRCm39)	missense	probably damaging	1.00
R5419:Gjb5	UTSW	4	127,249,652 (GRCm39)	missense	probably benign
R5494:Gjb5	UTSW	4	127,249,347 (GRCm39)	missense	probably damaging	0.99
R5664:Gjb5	UTSW	4	127,249,722 (GRCm39)	missense	probably benign	0.00
R5806:Gjb5	UTSW	4	127,249,718 (GRCm39)	missense	probably benign
R6369:Gjb5	UTSW	4	127,249,723 (GRCm39)	missense	possibly damaging	0.58
R6408:Gjb5	UTSW	4	127,249,940 (GRCm39)	missense	probably benign	0.24
R7747:Gjb5	UTSW	4	127,249,955 (GRCm39)	missense	probably damaging	1.00
R8488:Gjb5	UTSW	4	127,250,078 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18