Mutagenetix > Incidental Mutation

Incidental Mutation 'R6342:Dsg1b'

513934

Institutional Source

Beutler Lab

Gene Symbol

Dsg1b

Ensembl Gene

ENSMUSG00000061928

Gene Name

desmoglein 1 beta

Synonyms

Dsg5

MMRRC Submission

044496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6342 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20509786-20543253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20523300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 109 (I109T)

Ref Sequence

ENSEMBL: ENSMUSP00000076026 (fasta)

Gene Model

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

AlphaFold

Q7TSF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000076737
AA Change: I109T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076026
Gene: ENSMUSG00000061928
AA Change: I109T

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

Meta Mutation Damage Score

0.6004

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (31/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa9	T	C	3: 95,204,101 (GRCm39)	*346W	probably null	Het
Ap4b1	T	C	3: 103,720,684 (GRCm39)	V118A	possibly damaging	Het
Atrnl1	T	C	19: 57,626,942 (GRCm39)	S183P	probably damaging	Het
Cadm3	T	C	1: 173,168,675 (GRCm39)	T298A	possibly damaging	Het
Crtc1	A	C	8: 70,892,207 (GRCm39)	M1R	probably null	Het
Dalrd3	A	T	9: 108,448,322 (GRCm39)	K291*	probably null	Het
Dhrs9	C	T	2: 69,223,531 (GRCm39)	T93M	probably benign	Het
Dnmt1	G	T	9: 20,821,089 (GRCm39)	S1267*	probably null	Het
Epha3	C	A	16: 63,403,863 (GRCm39)	R745L	probably damaging	Het
Evi2	A	G	11: 79,406,784 (GRCm39)	S264P	probably benign	Het
Grin2a	A	T	16: 9,397,198 (GRCm39)	L963Q	probably damaging	Het
Klhdc7a	T	A	4: 139,694,370 (GRCm39)	R192S	probably benign	Het
Kynu	G	T	2: 43,571,463 (GRCm39)	D460Y	probably benign	Het
Lrfn2	G	A	17: 49,404,028 (GRCm39)	G717D	probably benign	Het
Lrp3	C	T	7: 34,901,731 (GRCm39)	D696N	probably benign	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or51a5	T	C	7: 102,771,563 (GRCm39)	T143A	probably damaging	Het
Rad17	A	T	13: 100,755,644 (GRCm39)	I579N	probably damaging	Het
Rif1	T	A	2: 52,009,168 (GRCm39)	Y2316N	probably damaging	Het
Ros1	T	A	10: 52,031,351 (GRCm39)	D430V	probably damaging	Het
Rp9	A	T	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Rtl1	T	C	12: 109,558,735 (GRCm39)	T1035A	possibly damaging	Het
Slc2a5	A	C	4: 150,223,983 (GRCm39)	D225A	possibly damaging	Het
Tlx3	A	T	11: 33,152,567 (GRCm39)	V176E	possibly damaging	Het
Trpv3	G	A	11: 73,174,689 (GRCm39)	G352D	probably damaging	Het
Ubr4	C	A	4: 139,156,850 (GRCm39)	H2292N	possibly damaging	Het
Wee2	A	G	6: 40,421,189 (GRCm39)	H93R	probably benign	Het
Xirp2	T	G	2: 67,341,994 (GRCm39)	L1412V	possibly damaging	Het
Zfat	T	C	15: 68,052,831 (GRCm39)	H321R	probably damaging	Het
Zfp623	C	A	15: 75,819,837 (GRCm39)	C264*	probably null	Het
Zfp687	G	C	3: 94,919,188 (GRCm39)	P195A	probably benign	Het

Other mutations in Dsg1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Dsg1b	APN	18	20,529,533 (GRCm39)	missense	probably damaging	1.00
IGL00675:Dsg1b	APN	18	20,524,975 (GRCm39)	nonsense	probably null
IGL01071:Dsg1b	APN	18	20,542,272 (GRCm39)	missense	probably damaging	1.00
IGL01589:Dsg1b	APN	18	20,542,651 (GRCm39)	missense	probably damaging	1.00
IGL01729:Dsg1b	APN	18	20,538,295 (GRCm39)	missense	possibly damaging	0.66
IGL01753:Dsg1b	APN	18	20,530,906 (GRCm39)	splice site	probably benign
IGL02560:Dsg1b	APN	18	20,542,235 (GRCm39)	missense	possibly damaging	0.80
IGL02654:Dsg1b	APN	18	20,542,319 (GRCm39)	missense	probably damaging	1.00
IGL02726:Dsg1b	APN	18	20,532,542 (GRCm39)	missense	probably benign
IGL03272:Dsg1b	APN	18	20,530,446 (GRCm39)	missense	probably benign	0.25
IGL03342:Dsg1b	APN	18	20,542,517 (GRCm39)	missense	probably benign	0.09
IGL02835:Dsg1b	UTSW	18	20,525,071 (GRCm39)	missense	possibly damaging	0.66
R0080:Dsg1b	UTSW	18	20,530,424 (GRCm39)	missense	probably damaging	1.00
R0133:Dsg1b	UTSW	18	20,537,935 (GRCm39)	missense	probably damaging	0.96
R0455:Dsg1b	UTSW	18	20,529,082 (GRCm39)	missense	probably benign	0.02
R0498:Dsg1b	UTSW	18	20,542,390 (GRCm39)	missense	possibly damaging	0.95
R0518:Dsg1b	UTSW	18	20,521,221 (GRCm39)	missense	probably benign	0.00
R1418:Dsg1b	UTSW	18	20,530,487 (GRCm39)	nonsense	probably null
R1429:Dsg1b	UTSW	18	20,523,252 (GRCm39)	missense	probably damaging	1.00
R1450:Dsg1b	UTSW	18	20,542,241 (GRCm39)	missense	probably damaging	1.00
R1569:Dsg1b	UTSW	18	20,529,537 (GRCm39)	missense	probably damaging	1.00
R1674:Dsg1b	UTSW	18	20,532,578 (GRCm39)	missense	probably benign
R1934:Dsg1b	UTSW	18	20,528,963 (GRCm39)	missense	probably damaging	1.00
R2004:Dsg1b	UTSW	18	20,529,532 (GRCm39)	missense	probably damaging	0.99
R2191:Dsg1b	UTSW	18	20,542,675 (GRCm39)	makesense	probably null
R2192:Dsg1b	UTSW	18	20,542,675 (GRCm39)	makesense	probably null
R2927:Dsg1b	UTSW	18	20,538,308 (GRCm39)	missense	probably benign	0.23
R3777:Dsg1b	UTSW	18	20,532,644 (GRCm39)	missense	probably damaging	1.00
R3801:Dsg1b	UTSW	18	20,523,260 (GRCm39)	missense	probably damaging	1.00
R4205:Dsg1b	UTSW	18	20,541,878 (GRCm39)	missense	probably damaging	1.00
R4718:Dsg1b	UTSW	18	20,530,986 (GRCm39)	missense	probably damaging	0.98
R4853:Dsg1b	UTSW	18	20,523,189 (GRCm39)	critical splice acceptor site	probably null
R4853:Dsg1b	UTSW	18	20,541,793 (GRCm39)	missense	probably benign	0.01
R4981:Dsg1b	UTSW	18	20,541,925 (GRCm39)	missense	possibly damaging	0.66
R5125:Dsg1b	UTSW	18	20,530,560 (GRCm39)	missense	probably damaging	1.00
R5178:Dsg1b	UTSW	18	20,530,560 (GRCm39)	missense	probably damaging	1.00
R5213:Dsg1b	UTSW	18	20,528,987 (GRCm39)	missense	probably damaging	1.00
R5450:Dsg1b	UTSW	18	20,542,121 (GRCm39)	missense	probably damaging	1.00
R5605:Dsg1b	UTSW	18	20,532,596 (GRCm39)	missense	probably benign
R5778:Dsg1b	UTSW	18	20,542,279 (GRCm39)	missense	possibly damaging	0.66
R5808:Dsg1b	UTSW	18	20,541,782 (GRCm39)	missense	probably damaging	1.00
R6144:Dsg1b	UTSW	18	20,529,476 (GRCm39)	missense	possibly damaging	0.92
R6185:Dsg1b	UTSW	18	20,532,543 (GRCm39)	missense	probably benign
R6268:Dsg1b	UTSW	18	20,521,220 (GRCm39)	missense	probably benign	0.01
R6291:Dsg1b	UTSW	18	20,537,848 (GRCm39)	missense	possibly damaging	0.71
R6449:Dsg1b	UTSW	18	20,527,498 (GRCm39)	missense	possibly damaging	0.82
R6566:Dsg1b	UTSW	18	20,530,499 (GRCm39)	missense	probably damaging	1.00
R6817:Dsg1b	UTSW	18	20,527,462 (GRCm39)	missense	probably damaging	1.00
R7235:Dsg1b	UTSW	18	20,532,480 (GRCm39)	missense	probably benign	0.01
R7857:Dsg1b	UTSW	18	20,529,520 (GRCm39)	missense	probably benign	0.06
R8209:Dsg1b	UTSW	18	20,541,947 (GRCm39)	missense	probably benign	0.36
R8283:Dsg1b	UTSW	18	20,524,963 (GRCm39)	missense	probably benign	0.01
R8328:Dsg1b	UTSW	18	20,510,007 (GRCm39)	missense	probably benign	0.00
R8746:Dsg1b	UTSW	18	20,529,056 (GRCm39)	missense	probably damaging	1.00
R8962:Dsg1b	UTSW	18	20,542,316 (GRCm39)	missense	probably damaging	1.00
R9095:Dsg1b	UTSW	18	20,523,282 (GRCm39)	missense	probably damaging	1.00
R9319:Dsg1b	UTSW	18	20,531,004 (GRCm39)	nonsense	probably null
R9386:Dsg1b	UTSW	18	20,525,071 (GRCm39)	missense	possibly damaging	0.66
R9478:Dsg1b	UTSW	18	20,531,008 (GRCm39)	missense
R9695:Dsg1b	UTSW	18	20,532,389 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATCTGGCATGTAGAAGTTCAC -3'
(R):5'- GAGGAAAACTCTGATTCGGATGC -3'

Sequencing Primer
(F):5'- GCATGTAGAAGTTCACATAATGACCC -3'
(R):5'- TGGAAAAAGGAAGTATTGATCTCCAC -3'

Posted On

2018-04-27