Mutagenetix > Incidental Mutation

Incidental Mutation 'R3891:Dscaml1'

310399

Institutional Source

Beutler Lab

Gene Symbol

Dscaml1

Ensembl Gene

ENSMUSG00000032087

Gene Name

DS cell adhesion molecule like 1

Synonyms

4921507G06Rik, 4930435C18Rik

MMRRC Submission

040803-MU

Accession Numbers

Essential gene?

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

Stock #

R3891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45338735-45665011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45628782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1112 (D1112V)

Ref Sequence

ENSEMBL: ENSMUSP00000034592 (fasta)

Gene Model

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

AlphaFold

Q4VA61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034592
AA Change: D1112V

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: D1112V

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

unknown
Transcript: ENSMUST00000216685
AA Change: D141V

Meta Mutation Damage Score

0.3933

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,655,847 (GRCm39)	T72A	probably damaging	Het
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
C1qb	A	T	4: 136,607,727 (GRCm39)	V212E	probably damaging	Het
Cfap54	T	A	10: 92,874,708 (GRCm39)	I563F	possibly damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Col9a1	T	C	1: 24,224,517 (GRCm39)		probably null	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,768,340 (GRCm39)	S988P	possibly damaging	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Gm10088	T	C	16: 18,847,001 (GRCm39)		noncoding transcript	Het
Gm5616	A	G	9: 48,361,809 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,326,330 (GRCm39)	I190F	possibly damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Il1rap	A	G	16: 26,495,606 (GRCm39)	Y71C	probably damaging	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Naip2	T	A	13: 100,297,606 (GRCm39)	E810V	probably damaging	Het
Nfe2l1	A	G	11: 96,710,823 (GRCm39)	S181P	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or2t1	T	A	14: 14,328,114 (GRCm38)	M1K	probably null	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Polr2e	G	T	10: 79,873,213 (GRCm39)	P80T	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rpl13	A	G	8: 123,831,907 (GRCm39)	E201G	probably damaging	Het
Skint2	A	G	4: 112,481,383 (GRCm39)	E82G	probably damaging	Het
Skor2	A	G	18: 76,946,350 (GRCm39)	D24G	unknown	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc29a3	T	A	10: 60,552,040 (GRCm39)	K335*	probably null	Het
Slc30a6	T	A	17: 74,726,541 (GRCm39)	D282E	probably benign	Het
Slc9a7	A	G	X: 20,052,352 (GRCm39)	F247S	probably damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Stard10	G	A	7: 100,993,137 (GRCm39)	R231Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tesl1	A	G	X: 23,773,180 (GRCm39)	Y227C	probably damaging	Het
Vwa1	T	C	4: 155,857,651 (GRCm39)	E49G	probably damaging	Het
Zc3h12a	A	G	4: 125,020,678 (GRCm39)	F55S	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCTTGGCTCTAAGAACAAAG -3'
(R):5'- GAGTTGCCTACGGGATCAATG -3'

Sequencing Primer
(F):5'- AAGACATCTGAGAGTGTCACTGTGTC -3'
(R):5'- TGCCTACGGGATCAATGTAGGC -3'

Posted On

2015-04-17