Mutagenetix > Incidental Mutation

Incidental Mutation 'R8108:Dscam'

630764

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

067537-MU

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 96643879 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1537 (D1537E)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056102]

AlphaFold

Q9ERC8

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: D1537E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: D1537E

Domain	Start	End	E-Value	Type
IG_like	37	109	1.47e0	SMART
IG	130	218	8.33e-1	SMART
IGc2	237	300	8.7e-13	SMART
IGc2	326	392	1.24e-8	SMART
IGc2	419	491	1.1e-9	SMART
IGc2	516	582	1.99e-7	SMART
IGc2	608	676	1.84e-11	SMART
IGc2	702	773	6.01e-16	SMART
IG	794	883	1.73e-7	SMART
FN3	885	969	7.34e-9	SMART
FN3	985	1073	4.06e-11	SMART
FN3	1088	1174	7.23e-8	SMART
FN3	1189	1270	2.6e-9	SMART
IGc2	1301	1366	2.05e-9	SMART
FN3	1380	1460	7.17e-12	SMART
FN3	1477	1557	4.35e1	SMART
transmembrane domain	1595	1617	N/A	INTRINSIC
low complexity region	1799	1809	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

MGI Phenotype

Strain: 4830358; 3840666;5305025;3761008
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(6) Gene trapped(1) Spontaneous(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,017,361	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153	T332A	unknown	Het
Chd9	C	T	8: 90,933,224	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246	Y119C	probably benign	Het
Dusp16	A	G	6: 134,739,873	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829	D508G	probably benign	Het
Endov	T	C	11: 119,507,411	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379		probably null	Het
Gm1110	T	C	9: 26,920,661	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200	V19A		Het
Gm436	A	T	4: 144,670,669	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Grm1	C	A	10: 10,720,132	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945	F141S	possibly damaging	Het
Kifap3	T	A	1: 163,797,362	N162K	probably damaging	Het
Klhl5	A	G	5: 65,148,587		probably null	Het
Klre1	A	G	6: 129,584,222	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960	V519I	probably benign	Het
Npat	G	T	9: 53,571,129	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634	T3870S	probably benign	Het
Olfr1000	T	C	2: 85,608,749	R54G	possibly damaging	Het
Olfr1288	T	C	2: 111,479,234	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225		probably null	Het
Proser1	T	A	3: 53,472,088		probably null	Het
Reg3d	T	A	6: 78,376,079	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154	I338V	possibly damaging	Het
Slc35g1	C	G	19: 38,402,829	S186R	probably damaging	Het
Slc35g1	T	A	19: 38,402,831	L187H	probably damaging	Het
Spata5	T	C	3: 37,431,782	S218P	probably benign	Het
Tbc1d5	T	C	17: 50,742,086	I659V	probably benign	Het
Tbl3	G	T	17: 24,700,916	D751E	probably benign	Het
Tdrd3	T	A	14: 87,486,266	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305	N178K	probably benign	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96,608,065 (GRCm38)	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96,819,877 (GRCm38)	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96,643,882 (GRCm38)	nonsense	probably null
IGL01358:Dscam	APN	16	96,610,343 (GRCm38)	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96,652,078 (GRCm38)	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96,673,709 (GRCm38)	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96,654,936 (GRCm38)	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96,685,350 (GRCm38)	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96,716,069 (GRCm38)	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96,801,197 (GRCm38)	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96,716,073 (GRCm38)	nonsense	probably null
IGL02389:Dscam	APN	16	96,640,897 (GRCm38)	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96,819,888 (GRCm38)	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96,593,276 (GRCm38)	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96,709,247 (GRCm38)	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96,801,272 (GRCm38)	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96,819,970 (GRCm38)	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96,820,769 (GRCm38)	missense	probably benign	0.36
growler	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
Twostep	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
F6893:Dscam	UTSW	16	97,056,460 (GRCm38)	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96,673,687 (GRCm38)	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96,593,385 (GRCm38)	nonsense	probably null
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96,716,079 (GRCm38)	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	97,039,006 (GRCm38)	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96,654,905 (GRCm38)	missense	probably benign	0.00
R0380:Dscam	UTSW	16	97,056,610 (GRCm38)	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96,772,503 (GRCm38)	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0534:Dscam	UTSW	16	96,652,172 (GRCm38)	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96,772,408 (GRCm38)	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0738:Dscam	UTSW	16	96,819,781 (GRCm38)	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96,833,433 (GRCm38)	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96,772,494 (GRCm38)	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96,819,951 (GRCm38)	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96,608,074 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96,790,910 (GRCm38)	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96,819,874 (GRCm38)	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96,819,876 (GRCm38)	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96,685,379 (GRCm38)	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96,825,581 (GRCm38)	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96,593,214 (GRCm38)	missense	probably benign	0.00
R2005:Dscam	UTSW	16	97,038,920 (GRCm38)	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96,819,912 (GRCm38)	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96,610,349 (GRCm38)	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96,622,715 (GRCm38)	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96,685,412 (GRCm38)	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96,801,355 (GRCm38)	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96,683,772 (GRCm38)	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96,709,109 (GRCm38)	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96,709,216 (GRCm38)	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96,610,319 (GRCm38)	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96,825,623 (GRCm38)	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96,717,996 (GRCm38)	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96,685,301 (GRCm38)	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96,619,571 (GRCm38)	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96,830,056 (GRCm38)	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96,643,988 (GRCm38)	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96,683,818 (GRCm38)	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96,697,521 (GRCm38)	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96,825,515 (GRCm38)	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96,772,437 (GRCm38)	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96,819,779 (GRCm38)	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96,790,900 (GRCm38)	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96,820,920 (GRCm38)	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96,825,581 (GRCm38)	missense	probably benign
R6240:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96,673,714 (GRCm38)	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96,622,811 (GRCm38)	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96,678,425 (GRCm38)	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96,619,644 (GRCm38)	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96,825,735 (GRCm38)	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96,819,784 (GRCm38)	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96,645,073 (GRCm38)	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96,648,237 (GRCm38)	missense	probably damaging	1.00
R6792:Dscam	UTSW	16	96,593,255 (GRCm38)	missense	probably damaging	0.96
R6827:Dscam	UTSW	16	97,038,991 (GRCm38)	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96,829,940 (GRCm38)	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96,829,900 (GRCm38)	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96,820,788 (GRCm38)	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96,819,786 (GRCm38)	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96,829,917 (GRCm38)	nonsense	probably null
R7180:Dscam	UTSW	16	96,825,564 (GRCm38)	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96,650,344 (GRCm38)	splice site	probably null
R7247:Dscam	UTSW	16	96,820,808 (GRCm38)	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96,678,401 (GRCm38)	missense	probably benign	0.00
R7301:Dscam	UTSW	16	97,056,532 (GRCm38)	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96,645,035 (GRCm38)	nonsense	probably null
R7368:Dscam	UTSW	16	96,643,931 (GRCm38)	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96,629,398 (GRCm38)	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96,819,889 (GRCm38)	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96,641,026 (GRCm38)	splice site	probably null
R7624:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96,790,901 (GRCm38)	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96,640,864 (GRCm38)	missense	probably benign
R7843:Dscam	UTSW	16	96,825,630 (GRCm38)	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96,643,922 (GRCm38)	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96,801,174 (GRCm38)	splice site	probably null
R8770:Dscam	UTSW	16	96,654,906 (GRCm38)	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96,619,628 (GRCm38)	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96,801,380 (GRCm38)	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	97,038,916 (GRCm38)	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96,619,568 (GRCm38)	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96,685,353 (GRCm38)	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96,685,229 (GRCm38)	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96,716,063 (GRCm38)	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	97,056,657 (GRCm38)	missense	probably benign	0.19
R9385:Dscam	UTSW	16	97,039,003 (GRCm38)	missense	probably benign
R9674:Dscam	UTSW	16	96,640,836 (GRCm38)	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96,709,161 (GRCm38)	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96,772,561 (GRCm38)	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96,608,189 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCGTAGGAGAGTGAATAGTATACG -3'
(R):5'- AGCTGTGGCCATCCATGTAC -3'

Sequencing Primer
(F):5'- GTGAATAGTATACGTGTGCACATCCC -3'
(R):5'- TTCTCCAAGGAGCAGGAGC -3'

Posted On

2020-06-30