Mutagenetix > Incidental Mutation

Incidental Mutation 'R6240:Dscam'

505208

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik, Down syndrome cell adhesion molecule

MMRRC Submission

044364-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96392040-96971952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96420702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1728 (T1728M)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056102
AA Change: T1728M

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

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: T1728M

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

Meta Mutation Damage Score

0.1075

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

MGI Phenotype

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	A	14: 64,223,701 (GRCm39)	R25L	probably damaging	Het
Adamts1	G	A	16: 85,599,045 (GRCm39)	S185L	probably benign	Het
Adamts12	A	T	15: 11,286,044 (GRCm39)	D751V	probably benign	Het
Adgrg3	A	G	8: 95,766,544 (GRCm39)	D405G	probably benign	Het
Ahi1	A	G	10: 20,852,980 (GRCm39)	D516G	probably damaging	Het
Ahnak	A	T	19: 8,990,947 (GRCm39)	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,489,658 (GRCm39)	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,407,997 (GRCm39)	V2170A	unknown	Het
Asxl3	C	T	18: 22,598,565 (GRCm39)	L227F	probably damaging	Het
B3glct	A	G	5: 149,650,253 (GRCm39)	I119V	probably benign	Het
Brd10	A	T	19: 29,694,640 (GRCm39)	S1618T	probably benign	Het
Cad	T	A	5: 31,230,322 (GRCm39)	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,713,226 (GRCm39)	T172A	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Clmp	A	G	9: 40,693,707 (GRCm39)	N308S	probably damaging	Het
Dlg5	A	T	14: 24,199,596 (GRCm39)		probably null	Het
E4f1	A	G	17: 24,663,556 (GRCm39)	S524P	possibly damaging	Het
Epha5	G	C	5: 84,265,438 (GRCm39)	A452G	probably benign	Het
Fzd3	T	C	14: 65,447,304 (GRCm39)	T542A	probably damaging	Het
Glyctk	A	T	9: 106,033,461 (GRCm39)		probably null	Het
Gm10382	G	A	5: 125,466,660 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,904,281 (GRCm39)	M127L	probably benign	Het
Hoxc10	T	A	15: 102,879,265 (GRCm39)	W262R	probably damaging	Het
Icam5	T	A	9: 20,944,454 (GRCm39)	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,754,537 (GRCm39)	C180S	probably damaging	Het
Kcnk2	A	G	1: 188,975,179 (GRCm39)	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,236,045 (GRCm39)	S98F	probably damaging	Het
Mob3a	C	G	10: 80,525,698 (GRCm39)	E204D	possibly damaging	Het
Morc3	C	G	16: 93,659,572 (GRCm39)	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,964,126 (GRCm39)	N876I	probably benign	Het
Myo16	A	T	8: 10,420,930 (GRCm39)	T257S	probably damaging	Het
Nat1	A	T	8: 67,944,354 (GRCm39)	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,194,955 (GRCm39)	V17A	probably benign	Het
Or13p8	A	G	4: 118,583,668 (GRCm39)	S75G	probably benign	Het
Or4c111	A	G	2: 88,843,970 (GRCm39)	I146T	probably benign	Het
Or4c11c	A	G	2: 88,661,707 (GRCm39)	D82G	probably benign	Het
Or4m1	A	G	14: 50,558,043 (GRCm39)	V83A	probably benign	Het
Or6c70	C	A	10: 129,710,546 (GRCm39)	V27L	probably benign	Het
Pcdh7	T	C	5: 57,878,704 (GRCm39)	L753P	probably damaging	Het
Pcf11	T	A	7: 92,295,710 (GRCm39)	E1446D	probably damaging	Het
Pepd	A	G	7: 34,721,176 (GRCm39)	I267V	probably benign	Het
Plk2	T	A	13: 110,536,008 (GRCm39)	Y571N	probably damaging	Het
Plk2	T	A	13: 110,536,568 (GRCm39)	V620E	probably damaging	Het
Prag1	T	C	8: 36,570,506 (GRCm39)	L363P	probably benign	Het
Psmd3	A	G	11: 98,584,479 (GRCm39)	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,127,297 (GRCm39)	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635 (GRCm39)	Y109H	probably benign	Het
Robo2	G	A	16: 73,779,027 (GRCm39)	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,323,893 (GRCm39)		probably benign	Het
Spata31e4	G	A	13: 50,855,453 (GRCm39)	D364N	probably damaging	Het
Srgap1	A	G	10: 121,883,061 (GRCm39)	I13T	probably benign	Het
Tcf12	T	A	9: 71,851,298 (GRCm39)	K110*	probably null	Het
Tdrd1	T	C	19: 56,829,767 (GRCm39)	S214P	probably benign	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Tmem255b	A	G	8: 13,504,216 (GRCm39)	Y136C	probably damaging	Het
Tmem63c	A	T	12: 87,123,179 (GRCm39)	I448F	possibly damaging	Het
Tnpo1	T	C	13: 99,000,337 (GRCm39)	I335M	probably damaging	Het
Vmn1r1	T	C	1: 181,985,186 (GRCm39)	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,899 (GRCm39)	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,464,226 (GRCm39)	S203C	probably damaging	Het
Zfp628	A	G	7: 4,922,848 (GRCm39)	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,111,180 (GRCm39)	K220E	probably damaging	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96,409,265 (GRCm39)	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96,621,077 (GRCm39)	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96,445,082 (GRCm39)	nonsense	probably null
IGL01358:Dscam	APN	16	96,411,543 (GRCm39)	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96,453,278 (GRCm39)	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96,474,909 (GRCm39)	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96,456,136 (GRCm39)	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96,486,550 (GRCm39)	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96,517,269 (GRCm39)	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96,602,397 (GRCm39)	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96,517,273 (GRCm39)	nonsense	probably null
IGL02389:Dscam	APN	16	96,442,097 (GRCm39)	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96,621,088 (GRCm39)	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96,394,476 (GRCm39)	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96,510,447 (GRCm39)	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96,602,472 (GRCm39)	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96,621,170 (GRCm39)	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96,621,969 (GRCm39)	missense	probably benign	0.36
growler	UTSW	16	96,622,197 (GRCm39)	missense	probably damaging	0.99
Twostep	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
F6893:Dscam	UTSW	16	96,857,660 (GRCm39)	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96,474,887 (GRCm39)	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96,394,585 (GRCm39)	nonsense	probably null
R0057:Dscam	UTSW	16	96,474,936 (GRCm39)	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96,474,936 (GRCm39)	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96,474,878 (GRCm39)	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96,517,279 (GRCm39)	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	96,840,206 (GRCm39)	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96,456,105 (GRCm39)	missense	probably benign	0.00
R0380:Dscam	UTSW	16	96,857,810 (GRCm39)	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96,573,703 (GRCm39)	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
R0534:Dscam	UTSW	16	96,453,372 (GRCm39)	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96,573,608 (GRCm39)	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
R0738:Dscam	UTSW	16	96,620,981 (GRCm39)	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96,634,633 (GRCm39)	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96,573,694 (GRCm39)	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96,621,151 (GRCm39)	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96,409,274 (GRCm39)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,602,453 (GRCm39)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,602,453 (GRCm39)	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96,592,110 (GRCm39)	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96,621,074 (GRCm39)	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96,621,076 (GRCm39)	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96,486,579 (GRCm39)	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96,626,781 (GRCm39)	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96,394,414 (GRCm39)	missense	probably benign	0.00
R2005:Dscam	UTSW	16	96,840,120 (GRCm39)	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96,621,112 (GRCm39)	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96,411,549 (GRCm39)	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96,420,702 (GRCm39)	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96,423,915 (GRCm39)	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96,486,612 (GRCm39)	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96,602,555 (GRCm39)	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96,479,710 (GRCm39)	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96,479,710 (GRCm39)	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96,622,197 (GRCm39)	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96,484,972 (GRCm39)	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96,510,309 (GRCm39)	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96,510,416 (GRCm39)	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96,411,519 (GRCm39)	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96,626,823 (GRCm39)	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96,519,196 (GRCm39)	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96,486,501 (GRCm39)	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96,420,771 (GRCm39)	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96,631,256 (GRCm39)	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96,445,188 (GRCm39)	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96,485,018 (GRCm39)	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96,498,721 (GRCm39)	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96,626,715 (GRCm39)	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96,573,637 (GRCm39)	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96,620,979 (GRCm39)	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96,474,878 (GRCm39)	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96,519,364 (GRCm39)	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96,519,364 (GRCm39)	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96,592,100 (GRCm39)	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96,622,120 (GRCm39)	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96,626,781 (GRCm39)	missense	probably benign
R6257:Dscam	UTSW	16	96,474,914 (GRCm39)	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96,424,011 (GRCm39)	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96,479,625 (GRCm39)	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96,420,844 (GRCm39)	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96,626,935 (GRCm39)	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96,620,984 (GRCm39)	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96,446,273 (GRCm39)	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96,449,437 (GRCm39)	missense	probably damaging	1.00
R6792:Dscam	UTSW	16	96,394,455 (GRCm39)	missense	probably damaging	0.96
R6827:Dscam	UTSW	16	96,840,191 (GRCm39)	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96,631,140 (GRCm39)	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96,631,100 (GRCm39)	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96,621,988 (GRCm39)	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96,620,986 (GRCm39)	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96,631,117 (GRCm39)	nonsense	probably null
R7180:Dscam	UTSW	16	96,626,764 (GRCm39)	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96,451,544 (GRCm39)	splice site	probably null
R7247:Dscam	UTSW	16	96,622,008 (GRCm39)	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96,479,601 (GRCm39)	missense	probably benign	0.00
R7301:Dscam	UTSW	16	96,857,732 (GRCm39)	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96,446,235 (GRCm39)	nonsense	probably null
R7368:Dscam	UTSW	16	96,445,131 (GRCm39)	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96,430,598 (GRCm39)	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96,621,089 (GRCm39)	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96,442,226 (GRCm39)	splice site	probably null
R7624:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96,592,101 (GRCm39)	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96,442,064 (GRCm39)	missense	probably benign
R7843:Dscam	UTSW	16	96,626,830 (GRCm39)	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96,445,122 (GRCm39)	missense	probably benign	0.01
R8108:Dscam	UTSW	16	96,445,079 (GRCm39)	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96,602,374 (GRCm39)	splice site	probably null
R8770:Dscam	UTSW	16	96,456,106 (GRCm39)	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96,420,828 (GRCm39)	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96,602,580 (GRCm39)	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	96,840,116 (GRCm39)	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96,420,768 (GRCm39)	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96,486,553 (GRCm39)	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96,486,429 (GRCm39)	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96,517,263 (GRCm39)	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	96,857,857 (GRCm39)	missense	probably benign	0.19
R9385:Dscam	UTSW	16	96,840,203 (GRCm39)	missense	probably benign
R9674:Dscam	UTSW	16	96,442,036 (GRCm39)	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96,510,361 (GRCm39)	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96,573,761 (GRCm39)	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96,409,389 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGTAACCCAAGACTAAGGTGTG -3'
(R):5'- ACCTTTGTTAAACACACTTGGC -3'

Sequencing Primer
(F):5'- GGTTTGAGTTGACACACACC -3'
(R):5'- AAACACACTTGGCTTTTCTGTGTG -3'

Posted On

2018-02-28