Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Dscaml1'

482588

Institutional Source

Beutler Lab

Gene Symbol

Dscaml1

Ensembl Gene

ENSMUSG00000032087

Gene Name

DS cell adhesion molecule like 1

Synonyms

4921507G06Rik, 4930435C18Rik

MMRRC Submission

044234-MU

Accession Numbers

Essential gene?

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

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45338735-45665011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45361881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 214 (V214I)

Ref Sequence

ENSEMBL: ENSMUSP00000034592 (fasta)

Gene Model

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

AlphaFold

Q4VA61

Predicted Effect

probably benign
Transcript: ENSMUST00000034592
AA Change: V214I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: V214I

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

silent
Transcript: ENSMUST00000213919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217335

Predicted Effect

silent
Transcript: ENSMUST00000217538

Meta Mutation Damage Score

0.1373

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGACCCACACTGTTGTTAGTTCG -3'
(R):5'- GGAGCAGCAGCATATCAGTC -3'

Posted On

2017-07-14