Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Dscaml1'

279560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dscaml1

Ensembl Gene

ENSMUSG00000032087

Gene Name

DS cell adhesion molecule like 1

Synonyms

4921507G06Rik, 4930435C18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

45338735-45665011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45359001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 87 (N87D)

Ref Sequence

ENSEMBL: ENSMUSP00000034592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034592] [ENSMUST00000213919] [ENSMUST00000217538]

AlphaFold

Q4VA61

Predicted Effect

probably damaging
Transcript: ENSMUST00000034592
AA Change: N87D

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

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: N87D

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	28	55	N/A	INTRINSIC
IG_like	96	168	1.22e0	SMART
IG	189	277	1.15e-3	SMART
IGc2	296	359	2.54e-14	SMART
IGc2	385	451	8.12e-13	SMART
IGc2	478	550	9.55e-10	SMART
IGc2	575	640	9.78e-7	SMART
IGc2	666	734	5.93e-6	SMART
IGc2	760	832	6.75e-10	SMART
IG	853	943	1e-3	SMART
FN3	945	1029	6.64e-7	SMART
FN3	1045	1133	9.46e-12	SMART
FN3	1148	1234	3.2e-9	SMART
FN3	1249	1332	3.48e-10	SMART
IGc2	1363	1428	1.49e-11	SMART
FN3	1442	1522	3.42e-9	SMART
FN3	1537	1618	2.14e-1	SMART
low complexity region	1671	1683	N/A	INTRINSIC
low complexity region	2018	2026	N/A	INTRINSIC
low complexity region	2035	2069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217335

Predicted Effect

probably benign
Transcript: ENSMUST00000217538

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atad5	A	G	11: 79,985,533 (GRCm39)	S207G	probably benign	Het
Atp10a	A	G	7: 58,457,141 (GRCm39)	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,328,655 (GRCm39)	T569A	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,497 (GRCm39)	D173G	probably damaging	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Sema3g	C	T	14: 30,949,781 (GRCm39)	T654I	probably benign	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	Het

Other mutations in Dscaml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Dscaml1	APN	9	45,581,498 (GRCm39)	nonsense	probably null
IGL00497:Dscaml1	APN	9	45,663,536 (GRCm39)	missense	probably damaging	1.00
IGL00895:Dscaml1	APN	9	45,662,551 (GRCm39)	missense	probably damaging	0.99
IGL01011:Dscaml1	APN	9	45,594,970 (GRCm39)	missense	possibly damaging	0.76
IGL01086:Dscaml1	APN	9	45,613,960 (GRCm39)	splice site	probably benign
IGL01125:Dscaml1	APN	9	45,660,930 (GRCm39)	critical splice acceptor site	probably null
IGL01132:Dscaml1	APN	9	45,663,626 (GRCm39)	nonsense	probably null
IGL01356:Dscaml1	APN	9	45,658,155 (GRCm39)	missense	probably benign	0.03
IGL01459:Dscaml1	APN	9	45,653,981 (GRCm39)	nonsense	probably null
IGL01552:Dscaml1	APN	9	45,359,206 (GRCm39)	missense	probably damaging	1.00
IGL02033:Dscaml1	APN	9	45,595,080 (GRCm39)	missense	probably damaging	1.00
IGL02044:Dscaml1	APN	9	45,658,241 (GRCm39)	nonsense	probably null
IGL02166:Dscaml1	APN	9	45,594,999 (GRCm39)	missense	probably damaging	0.98
IGL02262:Dscaml1	APN	9	45,643,378 (GRCm39)	missense	probably benign	0.44
IGL02262:Dscaml1	APN	9	45,656,414 (GRCm39)	missense	probably benign
IGL02340:Dscaml1	APN	9	45,581,474 (GRCm39)	missense	possibly damaging	0.66
IGL02604:Dscaml1	APN	9	45,655,626 (GRCm39)	unclassified	probably benign
IGL02619:Dscaml1	APN	9	45,359,094 (GRCm39)	missense	probably damaging	1.00
IGL02805:Dscaml1	APN	9	45,359,195 (GRCm39)	missense	probably damaging	0.98
IGL03409:Dscaml1	APN	9	45,581,401 (GRCm39)	missense	probably damaging	1.00
D3080:Dscaml1	UTSW	9	45,595,623 (GRCm39)	missense	probably benign	0.44
IGL03050:Dscaml1	UTSW	9	45,654,297 (GRCm39)	missense	probably damaging	1.00
R0149:Dscaml1	UTSW	9	45,653,978 (GRCm39)	nonsense	probably null
R0582:Dscaml1	UTSW	9	45,579,562 (GRCm39)	missense	possibly damaging	0.77
R0629:Dscaml1	UTSW	9	45,632,716 (GRCm39)	missense	probably damaging	0.98
R0632:Dscaml1	UTSW	9	45,643,432 (GRCm39)	missense	probably benign	0.06
R0815:Dscaml1	UTSW	9	45,656,372 (GRCm39)	missense	probably benign	0.00
R1162:Dscaml1	UTSW	9	45,663,647 (GRCm39)	splice site	probably benign
R1449:Dscaml1	UTSW	9	45,653,521 (GRCm39)	missense	possibly damaging	0.95
R1474:Dscaml1	UTSW	9	45,596,519 (GRCm39)	missense	probably damaging	1.00
R1481:Dscaml1	UTSW	9	45,583,941 (GRCm39)	missense	probably benign	0.01
R1533:Dscaml1	UTSW	9	45,361,882 (GRCm39)	missense	probably damaging	0.99
R1542:Dscaml1	UTSW	9	45,660,738 (GRCm39)	missense	possibly damaging	0.84
R1572:Dscaml1	UTSW	9	45,632,631 (GRCm39)	missense	probably benign	0.00
R1627:Dscaml1	UTSW	9	45,664,445 (GRCm39)	missense	probably damaging	1.00
R1634:Dscaml1	UTSW	9	45,584,047 (GRCm39)	missense	probably damaging	1.00
R1713:Dscaml1	UTSW	9	45,663,988 (GRCm39)	missense	possibly damaging	0.49
R1777:Dscaml1	UTSW	9	45,595,054 (GRCm39)	missense	possibly damaging	0.58
R1812:Dscaml1	UTSW	9	45,662,584 (GRCm39)	critical splice donor site	probably null
R1834:Dscaml1	UTSW	9	45,594,930 (GRCm39)	missense	probably benign	0.00
R1907:Dscaml1	UTSW	9	45,651,778 (GRCm39)	missense	probably damaging	1.00
R1953:Dscaml1	UTSW	9	45,581,522 (GRCm39)	missense	probably benign	0.01
R2056:Dscaml1	UTSW	9	45,661,430 (GRCm39)	missense	probably damaging	0.99
R2193:Dscaml1	UTSW	9	45,596,532 (GRCm39)	missense	probably benign	0.21
R2497:Dscaml1	UTSW	9	45,656,376 (GRCm39)	missense	probably benign	0.00
R3768:Dscaml1	UTSW	9	45,643,435 (GRCm39)	missense	possibly damaging	0.94
R3891:Dscaml1	UTSW	9	45,628,782 (GRCm39)	missense	possibly damaging	0.84
R4110:Dscaml1	UTSW	9	45,643,366 (GRCm39)	missense	probably benign	0.07
R4706:Dscaml1	UTSW	9	45,361,878 (GRCm39)	missense	probably damaging	1.00
R4716:Dscaml1	UTSW	9	45,361,890 (GRCm39)	missense	probably damaging	1.00
R4719:Dscaml1	UTSW	9	45,583,993 (GRCm39)	missense	probably benign	0.13
R4770:Dscaml1	UTSW	9	45,581,404 (GRCm39)	missense	probably damaging	1.00
R4924:Dscaml1	UTSW	9	45,656,487 (GRCm39)	missense	probably damaging	1.00
R5167:Dscaml1	UTSW	9	45,628,730 (GRCm39)	missense	probably damaging	1.00
R5346:Dscaml1	UTSW	9	45,361,857 (GRCm39)	missense	possibly damaging	0.63
R5737:Dscaml1	UTSW	9	45,656,483 (GRCm39)	missense	probably damaging	0.99
R5977:Dscaml1	UTSW	9	45,632,596 (GRCm39)	missense	probably benign	0.19
R6073:Dscaml1	UTSW	9	45,361,881 (GRCm39)	missense	probably benign	0.22
R6276:Dscaml1	UTSW	9	45,579,458 (GRCm39)	missense	possibly damaging	0.62
R6415:Dscaml1	UTSW	9	45,594,975 (GRCm39)	nonsense	probably null
R6527:Dscaml1	UTSW	9	45,623,482 (GRCm39)	nonsense	probably null
R6582:Dscaml1	UTSW	9	45,664,104 (GRCm39)	missense	probably benign	0.00
R6655:Dscaml1	UTSW	9	45,658,235 (GRCm39)	missense	probably benign	0.00
R6772:Dscaml1	UTSW	9	45,621,609 (GRCm39)	missense	probably damaging	1.00
R6799:Dscaml1	UTSW	9	45,361,881 (GRCm39)	missense	probably benign	0.22
R6892:Dscaml1	UTSW	9	45,595,128 (GRCm39)	missense	probably damaging	0.99
R6918:Dscaml1	UTSW	9	45,341,805 (GRCm39)	missense	probably benign
R6967:Dscaml1	UTSW	9	45,585,821 (GRCm39)	missense	probably damaging	0.97
R7214:Dscaml1	UTSW	9	45,581,437 (GRCm39)	missense	probably benign	0.01
R7286:Dscaml1	UTSW	9	45,654,044 (GRCm39)	critical splice donor site	probably null
R7315:Dscaml1	UTSW	9	45,656,423 (GRCm39)	missense	probably benign	0.00
R7338:Dscaml1	UTSW	9	45,585,802 (GRCm39)	missense	probably benign	0.12
R7343:Dscaml1	UTSW	9	45,664,214 (GRCm39)	missense	probably benign
R7395:Dscaml1	UTSW	9	45,613,703 (GRCm39)	missense	possibly damaging	0.73
R7439:Dscaml1	UTSW	9	45,621,624 (GRCm39)	missense	possibly damaging	0.94
R7484:Dscaml1	UTSW	9	45,660,744 (GRCm39)	splice site	probably null
R7545:Dscaml1	UTSW	9	45,596,681 (GRCm39)	missense	probably benign	0.11
R7979:Dscaml1	UTSW	9	45,595,029 (GRCm39)	missense	probably damaging	1.00
R8005:Dscaml1	UTSW	9	45,628,808 (GRCm39)	missense	probably damaging	1.00
R8181:Dscaml1	UTSW	9	45,658,140 (GRCm39)	missense	possibly damaging	0.86
R8262:Dscaml1	UTSW	9	45,658,438 (GRCm39)	intron	probably benign
R8428:Dscaml1	UTSW	9	45,653,884 (GRCm39)	missense	probably benign	0.00
R8725:Dscaml1	UTSW	9	45,341,759 (GRCm39)	missense	probably benign	0.00
R8727:Dscaml1	UTSW	9	45,341,759 (GRCm39)	missense	probably benign	0.00
R8796:Dscaml1	UTSW	9	45,359,026 (GRCm39)	missense	probably damaging	0.99
R8840:Dscaml1	UTSW	9	45,634,718 (GRCm39)	missense	probably damaging	0.99
R9291:Dscaml1	UTSW	9	45,359,251 (GRCm39)	missense	probably damaging	1.00
R9394:Dscaml1	UTSW	9	45,661,354 (GRCm39)	missense	possibly damaging	0.64
R9610:Dscaml1	UTSW	9	45,579,522 (GRCm39)	missense	possibly damaging	0.95
R9611:Dscaml1	UTSW	9	45,579,522 (GRCm39)	missense	possibly damaging	0.95
R9653:Dscaml1	UTSW	9	45,643,466 (GRCm39)	critical splice donor site	probably null
R9699:Dscaml1	UTSW	9	45,654,315 (GRCm39)	missense	probably damaging	0.97
X0058:Dscaml1	UTSW	9	45,663,426 (GRCm39)	missense	probably benign	0.00
Z1177:Dscaml1	UTSW	9	45,584,089 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16