Mutagenetix > Incidental Mutation

Incidental Mutation 'R8898:Gja10'

678157

Institutional Source

Beutler Lab

Gene Symbol

Gja10

Ensembl Gene

ENSMUSG00000051056

Gene Name

gap junction protein, alpha 10

Synonyms

Cx59, Cx57, Cx-57, connexin-57

MMRRC Submission

068755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32596960-32602760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32601058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 442 (Q442R)

Ref Sequence

ENSEMBL: ENSMUSP00000151323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056517] [ENSMUST00000219644]

AlphaFold

Q9WUS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056517
AA Change: Q442R

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061742
Gene: ENSMUSG00000051056
AA Change: Q442R

Domain	Start	End	E-Value	Type
CNX	43	76	2.93e-17	SMART
Connexin_CCC	167	233	4.08e-43	SMART
low complexity region	445	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219644
AA Change: Q442R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are fertile with no obvious anatomical or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,001 (GRCm39)	L988*	probably null	Het
4930546C10Rik	A	G	18: 69,083,106 (GRCm39)	F36S	unknown	Het
Acan	C	A	7: 78,750,101 (GRCm39)	T1624K	possibly damaging	Het
Ambn	T	C	5: 88,613,051 (GRCm39)		probably null	Het
Ankrd24	T	C	10: 81,478,352 (GRCm39)	I437T	unknown	Het
Arl4d	C	T	11: 101,557,827 (GRCm39)	R118W	probably damaging	Het
Atg2a	A	G	19: 6,306,721 (GRCm39)		probably benign	Het
Bcan	T	C	3: 87,895,695 (GRCm39)	T814A	probably benign	Het
Brca2	T	A	5: 150,492,498 (GRCm39)	M3171K	possibly damaging	Het
Cd209a	T	A	8: 3,798,739 (GRCm39)	S23C	probably damaging	Het
Chek2	A	T	5: 111,011,175 (GRCm39)	K324N	probably benign	Het
Col12a1	C	T	9: 79,599,577 (GRCm39)	V859I	probably benign	Het
Cyp7b1	C	T	3: 18,150,788 (GRCm39)	R317H	probably benign	Het
Dmxl2	A	G	9: 54,308,941 (GRCm39)	S1937P	probably benign	Het
Epb41l1	T	G	2: 156,335,869 (GRCm39)	V11G	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fat3	G	A	9: 15,858,822 (GRCm39)	P3798L	probably benign	Het
Foxd1	T	A	13: 98,491,596 (GRCm39)	C157S	probably damaging	Het
Gm17019	A	C	5: 15,081,798 (GRCm39)	M47R	possibly damaging	Het
Gpr179	C	A	11: 97,242,329 (GRCm39)	E172*	probably null	Het
Grhl1	G	A	12: 24,634,945 (GRCm39)		probably null	Het
Gtf2ird2	A	T	5: 134,226,106 (GRCm39)	E184V	probably benign	Het
Hace1	A	G	10: 45,576,766 (GRCm39)	I813V	probably benign	Het
Hk2	A	T	6: 82,715,379 (GRCm39)	L385Q	probably damaging	Het
Htt	C	T	5: 34,976,376 (GRCm39)	T726I	probably benign	Het
Itga8	T	C	2: 12,145,206 (GRCm39)	S916G	probably benign	Het
Jag1	A	T	2: 136,935,175 (GRCm39)	F396I	probably damaging	Het
Kif16b	A	G	2: 142,554,899 (GRCm39)	M633T	possibly damaging	Het
Klf5	T	A	14: 99,538,922 (GRCm39)	F112I	probably damaging	Het
Lama1	A	T	17: 68,128,610 (GRCm39)	Q2989L		Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,859,931 (GRCm39)	T739A	possibly damaging	Het
Mbd3l2	A	T	9: 18,355,914 (GRCm39)	R80*	probably null	Het
Mctp2	T	C	7: 71,752,904 (GRCm39)	E783G	probably damaging	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
N4bp3	T	C	11: 51,535,256 (GRCm39)	N311S	probably benign	Het
Nanos2	A	T	7: 18,721,549 (GRCm39)	D7V	probably damaging	Het
Ndufs7	T	A	10: 80,089,619 (GRCm39)		probably null	Het
Nexn	T	C	3: 151,948,306 (GRCm39)	N483S	probably benign	Het
Nlrp1b	T	G	11: 71,073,288 (GRCm39)	E185A	probably damaging	Het
Nop2	C	A	6: 125,114,118 (GRCm39)	Q195K	probably benign	Het
Or4a15	A	G	2: 89,192,957 (GRCm39)	V272A	possibly damaging	Het
Or4n4	G	A	14: 50,518,952 (GRCm39)	P253S	probably damaging	Het
Pde12	G	A	14: 26,390,577 (GRCm39)	S44L	probably benign	Het
Pde1c	A	T	6: 56,114,371 (GRCm39)	V514E	probably damaging	Het
Pdzph1	A	T	17: 59,281,334 (GRCm39)	V316D	probably benign	Het
Prl3c1	A	T	13: 27,387,578 (GRCm39)	I208F	possibly damaging	Het
Raver2	G	A	4: 100,964,399 (GRCm39)		probably null	Het
Rpl13a-ps1	T	A	19: 50,018,747 (GRCm39)	H143L	probably benign	Het
Septin14	A	T	5: 129,760,642 (GRCm39)	I402K	possibly damaging	Het
Sla2	T	A	2: 156,717,885 (GRCm39)	Y129F	possibly damaging	Het
Smarca2	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	19: 26,608,358 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,911,567 (GRCm39)	S1448P	probably damaging	Het
Spast	G	A	17: 74,695,273 (GRCm39)	R604H	probably damaging	Het
Speg	G	A	1: 75,365,517 (GRCm39)	G633S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Syt11	T	C	3: 88,669,335 (GRCm39)	M186V	probably benign	Het
Tex26	C	A	5: 149,380,369 (GRCm39)	N133K	probably benign	Het
Tnfrsf17	T	C	16: 11,131,910 (GRCm39)	C32R	probably damaging	Het
Trem1	T	A	17: 48,544,374 (GRCm39)	V133E	probably damaging	Het
Trpm7	A	T	2: 126,664,661 (GRCm39)	M906K	possibly damaging	Het
Ugt2b35	T	A	5: 87,159,189 (GRCm39)	I461K	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,430 (GRCm39)	C28S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		probably benign	Het

Other mutations in Gja10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Gja10	APN	4	32,601,230 (GRCm39)	missense	possibly damaging	0.74
IGL01413:Gja10	APN	4	32,602,070 (GRCm39)	missense	probably damaging	1.00
IGL01504:Gja10	APN	4	32,602,375 (GRCm39)	missense	probably damaging	1.00
IGL01720:Gja10	APN	4	32,601,007 (GRCm39)	missense	probably benign	0.01
IGL02606:Gja10	APN	4	32,601,509 (GRCm39)	missense	probably benign	0.39
IGL02832:Gja10	APN	4	32,602,147 (GRCm39)	missense	probably damaging	0.99
R1806:Gja10	UTSW	4	32,601,135 (GRCm39)	missense	probably benign	0.11
R1893:Gja10	UTSW	4	32,601,541 (GRCm39)	missense	probably benign	0.39
R1928:Gja10	UTSW	4	32,601,812 (GRCm39)	nonsense	probably null
R4452:Gja10	UTSW	4	32,601,313 (GRCm39)	missense	probably benign
R4457:Gja10	UTSW	4	32,601,073 (GRCm39)	missense	probably benign	0.01
R5428:Gja10	UTSW	4	32,601,169 (GRCm39)	missense	probably benign	0.41
R6902:Gja10	UTSW	4	32,601,905 (GRCm39)	missense	probably damaging	1.00
R7126:Gja10	UTSW	4	32,601,014 (GRCm39)	missense	probably benign	0.00
R7488:Gja10	UTSW	4	32,602,058 (GRCm39)	nonsense	probably null
R8296:Gja10	UTSW	4	32,601,568 (GRCm39)	missense	probably benign	0.17
R8305:Gja10	UTSW	4	32,602,441 (GRCm39)	start gained	probably benign
R8489:Gja10	UTSW	4	32,601,866 (GRCm39)	missense	probably benign	0.01
R8535:Gja10	UTSW	4	32,602,274 (GRCm39)	missense	probably damaging	1.00
R8855:Gja10	UTSW	4	32,601,573 (GRCm39)	nonsense	probably null
R8877:Gja10	UTSW	4	32,602,441 (GRCm39)	start gained	probably benign
R9634:Gja10	UTSW	4	32,601,877 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTCATGTATGATGAAAGAAGAGTG -3'
(R):5'- TTGGTTCGGTACAATGACGG -3'

Sequencing Primer
(F):5'- TGAGGAGGTGAATCAACATGGCTG -3'
(R):5'- CATCATCTGCGTTAGAAACCTGGG -3'

Posted On

2021-08-02