Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03409:Dscaml1'

421726

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 #

IGL03409

Quality Score

Status

Chromosome

Chromosomal Location

45338735-45665011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45581401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 407 (Y407N)

Ref Sequence

ENSEMBL: ENSMUSP00000034592 (fasta)

Gene Model

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

AlphaFold

Q4VA61

Predicted Effect

probably damaging
Transcript: ENSMUST00000034592
AA Change: Y407N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: Y407N

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

probably benign
Transcript: ENSMUST00000216078

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	T	8: 124,691,762 (GRCm39)	M401K	possibly damaging	Het
Ablim3	T	A	18: 61,978,922 (GRCm39)	H203L	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aox1	T	G	1: 58,393,588 (GRCm39)	D1249E	possibly damaging	Het
Astn2	T	C	4: 65,353,423 (GRCm39)	I1116V	possibly damaging	Het
Atad3a	T	C	4: 155,831,807 (GRCm39)	D489G	probably damaging	Het
Caln1	G	T	5: 130,646,719 (GRCm39)	G52C	probably damaging	Het
Clcn7	A	G	17: 25,374,359 (GRCm39)	T467A	probably damaging	Het
Col17a1	A	T	19: 47,654,979 (GRCm39)	I599N	possibly damaging	Het
Cul2	T	A	18: 3,429,593 (GRCm39)	H547Q	probably damaging	Het
Cxcl14	T	C	13: 56,440,320 (GRCm39)	T80A	probably damaging	Het
Edc4	T	A	8: 106,611,748 (GRCm39)	I108N	probably damaging	Het
Exoc2	T	C	13: 31,124,720 (GRCm39)		probably benign	Het
Gm1110	T	G	9: 26,807,916 (GRCm39)	H290P	probably benign	Het
Gm16223	T	A	5: 42,225,336 (GRCm39)	W12R	unknown	Het
Herc2	C	A	7: 55,878,317 (GRCm39)	H4623Q	probably damaging	Het
Igkv18-36	A	T	6: 69,969,589 (GRCm39)	H68Q	possibly damaging	Het
Kif7	T	C	7: 79,357,301 (GRCm39)	E635G	probably benign	Het
Or2t47	T	C	11: 58,442,388 (GRCm39)	K226E	probably benign	Het
Or4c109	A	T	2: 88,817,931 (GRCm39)	I205N	possibly damaging	Het
Or52z13	T	A	7: 103,246,574 (GRCm39)	M17K	possibly damaging	Het
Or9m1b	A	T	2: 87,836,239 (GRCm39)	N285K	probably damaging	Het
Pam	C	A	1: 97,792,054 (GRCm39)	A456S	probably benign	Het
Pgap3	T	C	11: 98,289,764 (GRCm39)	T76A	possibly damaging	Het
Pkd2	C	A	5: 104,637,215 (GRCm39)	Y609*	probably null	Het
Plcg2	A	G	8: 118,310,234 (GRCm39)	D362G	probably damaging	Het
Polr3h	C	A	15: 81,801,595 (GRCm39)	A94S	probably benign	Het
Rhod	T	C	19: 4,482,186 (GRCm39)	D76G	probably damaging	Het
Rims2	T	C	15: 39,320,129 (GRCm39)	V670A	probably damaging	Het
Rpap3	G	A	15: 97,579,620 (GRCm39)	T464M	possibly damaging	Het
Rufy1	T	A	11: 50,297,310 (GRCm39)	I381L	probably benign	Het
Slc1a4	T	C	11: 20,256,506 (GRCm39)	T442A	probably damaging	Het
Slc9b1	T	C	3: 135,100,670 (GRCm39)	S472P	probably damaging	Het
Tmtc3	T	C	10: 100,287,294 (GRCm39)	T501A	possibly damaging	Het
Tnpo3	C	A	6: 29,555,181 (GRCm39)	D801Y	probably damaging	Het
Ttc39b	T	C	4: 83,179,193 (GRCm39)	Y111C	probably damaging	Het
Ubr4	A	T	4: 139,127,240 (GRCm39)	R543*	probably null	Het
Vmn1r74	T	G	7: 11,581,240 (GRCm39)	L180R	probably damaging	Het
Vps45	T	G	3: 95,960,401 (GRCm39)	E80A	probably benign	Het
Zfp677	T	C	17: 21,617,107 (GRCm39)	Y55H	probably damaging	Het
Zng1	A	G	19: 24,900,130 (GRCm39)	V289A	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
IGL02095:Dscaml1	APN	9	45,359,001 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02