Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Dscam'

710298

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik, Down syndrome cell adhesion molecule

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96392040-96971952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96840203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 135 (T135A)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: T135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: T135A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,675,486 (GRCm39)	Y110N	possibly damaging	Het
H13	A	G	2: 152,537,413 (GRCm39)	N286S	probably benign	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opcml	T	C	9: 28,586,459 (GRCm39)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,425 (GRCm39)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,645,563 (GRCm39)	I330T	probably damaging	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	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
R6240:Dscam	UTSW	16	96,420,702 (GRCm39)	missense	probably damaging	1.00
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
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'- CAACCAAGGTAAACTCATCCTTTG -3'
(R):5'- TTCCAGTGTCTGTGCGATGC -3'

Sequencing Primer
(F):5'- AGGTGTCCTTCCATATATCACACAG -3'
(R):5'- ATGCAATTTTTATCTGTGTGCCATGC -3'

Posted On

2022-04-18