Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Dsg1b'

682444

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20376729-20410196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20409259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 941 (N941S)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076737]

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: N941S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: N941S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.45e-14	SMART
CA	179	267	3.11e-21	SMART
CA	290	384	6.29e-8	SMART
CA	407	491	3.92e-1	SMART
low complexity region	523	541	N/A	INTRINSIC
low complexity region	576	587	N/A	INTRINSIC
low complexity region	593	601	N/A	INTRINSIC
Pfam:Cadherin_C	662	784	1.6e-10	PFAM
low complexity region	789	802	N/A	INTRINSIC
low complexity region	884	896	N/A	INTRINSIC
low complexity region	984	1006	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	probably benign	Het

Other mutations in Dsg1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dsg1b	APN	18	20396476	missense	probably damaging	1.00
IGL00675:Dsg1b	APN	18	20391918	nonsense	probably null
IGL01071:Dsg1b	APN	18	20409215	missense	probably damaging	1.00
IGL01589:Dsg1b	APN	18	20409594	missense	probably damaging	1.00
IGL01729:Dsg1b	APN	18	20405238	missense	possibly damaging	0.66
IGL01753:Dsg1b	APN	18	20397849	splice site	probably benign
IGL02560:Dsg1b	APN	18	20409178	missense	possibly damaging	0.80
IGL02654:Dsg1b	APN	18	20409262	missense	probably damaging	1.00
IGL02726:Dsg1b	APN	18	20399485	missense	probably benign
IGL03272:Dsg1b	APN	18	20397389	missense	probably benign	0.25
IGL03342:Dsg1b	APN	18	20409460	missense	probably benign	0.09
IGL02835:Dsg1b	UTSW	18	20392014	missense	possibly damaging	0.66
R0080:Dsg1b	UTSW	18	20397367	missense	probably damaging	1.00
R0133:Dsg1b	UTSW	18	20404878	missense	probably damaging	0.96
R0455:Dsg1b	UTSW	18	20396025	missense	probably benign	0.02
R0498:Dsg1b	UTSW	18	20409333	missense	possibly damaging	0.95
R0518:Dsg1b	UTSW	18	20388164	missense	probably benign	0.00
R1418:Dsg1b	UTSW	18	20397430	nonsense	probably null
R1429:Dsg1b	UTSW	18	20390195	missense	probably damaging	1.00
R1450:Dsg1b	UTSW	18	20409184	missense	probably damaging	1.00
R1569:Dsg1b	UTSW	18	20396480	missense	probably damaging	1.00
R1674:Dsg1b	UTSW	18	20399521	missense	probably benign
R1934:Dsg1b	UTSW	18	20395906	missense	probably damaging	1.00
R2004:Dsg1b	UTSW	18	20396475	missense	probably damaging	0.99
R2191:Dsg1b	UTSW	18	20409618	makesense	probably null
R2192:Dsg1b	UTSW	18	20409618	makesense	probably null
R2927:Dsg1b	UTSW	18	20405251	missense	probably benign	0.23
R3777:Dsg1b	UTSW	18	20399587	missense	probably damaging	1.00
R3801:Dsg1b	UTSW	18	20390203	missense	probably damaging	1.00
R4205:Dsg1b	UTSW	18	20408821	missense	probably damaging	1.00
R4718:Dsg1b	UTSW	18	20397929	missense	probably damaging	0.98
R4853:Dsg1b	UTSW	18	20408736	missense	probably benign	0.01
R4853:Dsg1b	UTSW	18	20390132	critical splice acceptor site	probably null
R4981:Dsg1b	UTSW	18	20408868	missense	possibly damaging	0.66
R5125:Dsg1b	UTSW	18	20397503	missense	probably damaging	1.00
R5178:Dsg1b	UTSW	18	20397503	missense	probably damaging	1.00
R5213:Dsg1b	UTSW	18	20395930	missense	probably damaging	1.00
R5450:Dsg1b	UTSW	18	20409064	missense	probably damaging	1.00
R5605:Dsg1b	UTSW	18	20399539	missense	probably benign
R5778:Dsg1b	UTSW	18	20409222	missense	possibly damaging	0.66
R5808:Dsg1b	UTSW	18	20408725	missense	probably damaging	1.00
R6144:Dsg1b	UTSW	18	20396419	missense	possibly damaging	0.92
R6185:Dsg1b	UTSW	18	20399486	missense	probably benign
R6268:Dsg1b	UTSW	18	20388163	missense	probably benign	0.01
R6291:Dsg1b	UTSW	18	20404791	missense	possibly damaging	0.71
R6342:Dsg1b	UTSW	18	20390243	missense	probably damaging	1.00
R6449:Dsg1b	UTSW	18	20394441	missense	possibly damaging	0.82
R6566:Dsg1b	UTSW	18	20397442	missense	probably damaging	1.00
R6817:Dsg1b	UTSW	18	20394405	missense	probably damaging	1.00
R7235:Dsg1b	UTSW	18	20399423	missense	probably benign	0.01
R7857:Dsg1b	UTSW	18	20396463	missense	probably benign	0.06
R8209:Dsg1b	UTSW	18	20408890	missense	probably benign	0.36
R8283:Dsg1b	UTSW	18	20391906	missense	probably benign	0.01
R8328:Dsg1b	UTSW	18	20376950	missense	probably benign	0.00
R8746:Dsg1b	UTSW	18	20395999	missense	probably damaging	1.00
R9095:Dsg1b	UTSW	18	20390225	missense	probably damaging	1.00
R9319:Dsg1b	UTSW	18	20397947	nonsense	probably null
R9386:Dsg1b	UTSW	18	20392014	missense	possibly damaging	0.66
R9478:Dsg1b	UTSW	18	20397951	missense
R9695:Dsg1b	UTSW	18	20399332	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTCCACTTTCATGATAACCAGCAG -3'
(R):5'- TGCTAACAAGGCCACTGCTG -3'

Sequencing Primer
(F):5'- CCAGCAGGCTTCAAATGTG -3'
(R):5'- AAGGCCACTGCTGCCTATG -3'

Posted On

2021-08-31