Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Dscam'

218362

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

038890-MU

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0707 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 96825782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably null
Transcript: ENSMUST00000056102

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272

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

Predicted Effect

probably null
Transcript: ENSMUST00000056102

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272

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

Predicted Effect

probably null
Transcript: ENSMUST00000056102

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,258,321	N2881K	unknown	Het
Acot11	A	G	4: 106,760,132	F259S	probably damaging	Het
Aldh16a1	T	A	7: 45,144,507		probably benign	Het
Ankrd24	A	T	10: 81,642,713		probably benign	Het
Arhgap5	T	C	12: 52,518,168	S641P	probably damaging	Het
Arpp21	A	C	9: 112,157,756	S242R	probably benign	Het
Bpifb5	A	G	2: 154,228,900	T204A	probably benign	Het
Bud31	A	G	5: 145,146,455	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,709,214	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,145,983	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,293,713		probably benign	Het
Ces2f	C	T	8: 104,950,986	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,613,619	N145K	possibly damaging	Het
Clock	A	G	5: 76,227,129	V731A	possibly damaging	Het
Cog6	C	T	3: 53,013,862	V108I	possibly damaging	Het
Crtc2	T	A	3: 90,263,497	F626I	probably damaging	Het
Dicer1	A	T	12: 104,706,885	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,172,582	K1780R	probably benign	Het
Dph5	A	C	3: 115,915,133	N155H	probably benign	Het
Etl4	C	A	2: 20,805,571		probably benign	Het
Flt3l	T	C	7: 45,136,026	S9G	probably benign	Het
Fmnl2	A	G	2: 53,054,486	E159G	possibly damaging	Het
Fryl	A	G	5: 73,083,372	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Herc6	G	A	6: 57,662,362	G905E	possibly damaging	Het
Hhip	T	A	8: 79,998,255	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,650,643		probably benign	Het
Kalrn	T	G	16: 34,010,581	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,790,739	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,347,340	K258*	probably null	Het
Myo1a	T	C	10: 127,719,863		probably benign	Het
Nlrp4f	C	T	13: 65,194,503	E443K	probably benign	Het
Nupr1l	A	G	5: 129,908,692	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,294,912		probably benign	Het
Olfr1469	A	T	19: 13,411,420	M284L	probably benign	Het
Olfr313	T	A	11: 58,817,751	L248M	probably damaging	Het
Olfr366	A	T	2: 37,220,196	K236*	probably null	Het
Olfr467	A	G	7: 107,815,124	D182G	probably damaging	Het
Olfr522	T	C	7: 140,162,089	N287S	probably damaging	Het
P2ry12	C	A	3: 59,217,487	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,518,851	I124N	probably damaging	Het
Pcnt	A	G	10: 76,420,541	F622L	probably damaging	Het
Pfas	A	T	11: 68,998,037	N361K	probably benign	Het
Plod2	T	G	9: 92,605,427	L600V	possibly damaging	Het
Pole	T	C	5: 110,298,988	Y631H	probably damaging	Het
Proser1	T	C	3: 53,478,776	L693P	probably damaging	Het
Ptprd	A	G	4: 75,957,239	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,326,026		probably null	Het
Ric8a	A	G	7: 140,857,973		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rimkla	C	T	4: 119,477,980	V69M	probably damaging	Het
Scfd1	A	T	12: 51,412,577	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,232,263	F33S	probably damaging	Het
Smg7	T	G	1: 152,870,757		probably null	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Strn3	G	A	12: 51,610,404	T642I	probably damaging	Het
Syne2	T	C	12: 75,982,063		probably null	Het
Syne3	A	G	12: 104,969,360	L53P	probably damaging	Het
Tcea1	T	A	1: 4,880,346		probably benign	Het
Tmem30b	T	C	12: 73,546,168	N58D	probably benign	Het
Tnpo1	A	G	13: 98,855,446	Y641H	probably damaging	Het
Trim25	A	T	11: 88,999,738	T84S	probably benign	Het
Trip4	A	T	9: 65,839,004	F537I	possibly damaging	Het
Uaca	G	A	9: 60,848,618		probably benign	Het
Ugt2b34	T	A	5: 86,892,899	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,619,432	V281A	probably benign	Het
Vps13d	A	T	4: 145,155,932	D1030E	probably damaging	Het
Vps8	C	A	16: 21,442,357	F82L	probably damaging	Het
Zfp296	A	G	7: 19,579,736	D172G	probably benign	Het
Zfp977	C	A	7: 42,580,534	C189F	probably damaging	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96608065	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96819877	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96643882	nonsense	probably null
IGL01358:Dscam	APN	16	96610343	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96652078	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96673709	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96654936	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96685350	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96716069	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96801197	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96716073	nonsense	probably null
IGL02389:Dscam	APN	16	96640897	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96819888	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96593276	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96709247	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96801272	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96819970	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96820769	missense	probably benign	0.36
growler	UTSW	16	96820997	missense	probably damaging	0.99
Twostep	UTSW	16	96825782	splice site	probably null
F6893:Dscam	UTSW	16	97056460	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96673687	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96593385	nonsense	probably null
R0057:Dscam	UTSW	16	96673736	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96673736	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96673678	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96716079	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	97039006	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96654905	missense	probably benign	0.00
R0380:Dscam	UTSW	16	97056610	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96772503	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96825782	splice site	probably null
R0534:Dscam	UTSW	16	96652172	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96772408	missense	probably benign	0.19
R0738:Dscam	UTSW	16	96819781	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96833433	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96772494	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96819951	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96608074	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96801253	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96801253	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96790910	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96819874	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96819876	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96685379	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96825581	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96593214	missense	probably benign	0.00
R2005:Dscam	UTSW	16	97038920	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96819912	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96610349	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96610324	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96619502	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96622715	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96685412	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96801355	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96678510	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96678510	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96820997	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96683772	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96709109	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96709216	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96610319	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96825623	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96717996	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96685301	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96610324	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96619571	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96830056	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96643988	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96683818	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96697521	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96825515	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96772437	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96819779	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96673678	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96718164	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96718164	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96790900	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96820920	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96825581	missense	probably benign
R6240:Dscam	UTSW	16	96619502	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96673714	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96622811	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96678425	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96619644	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96825735	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96819784	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96645073	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96593255	missense	probably damaging	0.96
R6792:Dscam	UTSW	16	96648237	missense	probably damaging	1.00
R6827:Dscam	UTSW	16	97038991	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96829940	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96829900	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96820788	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96819786	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96829917	nonsense	probably null
R7180:Dscam	UTSW	16	96825564	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96650344	splice site	probably null
R7247:Dscam	UTSW	16	96820808	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96678401	missense	probably benign	0.00
R7301:Dscam	UTSW	16	97056532	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96645035	nonsense	probably null
R7368:Dscam	UTSW	16	96643931	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96629398	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96819889	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96641026	splice site	probably null
R7624:Dscam	UTSW	16	96610324	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96790901	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96640864	missense	probably benign
R7843:Dscam	UTSW	16	96825630	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96643922	missense	probably benign	0.01
R8108:Dscam	UTSW	16	96643879	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96801174	splice site	probably null
R8770:Dscam	UTSW	16	96654906	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96619628	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96801380	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	97038916	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96619568	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96685353	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96685229	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96716063	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	97056657	missense	probably benign	0.19
R9385:Dscam	UTSW	16	97039003	missense	probably benign
R9674:Dscam	UTSW	16	96640836	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96709161	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96772561	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96608189	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTTCAAGGACCACCTGGACATAG -3'
(R):5'- ACTAAGGCTAGGCCATCAGTGCTC -3'

Sequencing Primer
(F):5'- CACCTGGACATAGTCTTGAGCAG -3'
(R):5'- CAAGCCCAACAGGGTTTTTTG -3'

Posted On

2014-08-01