Mutagenetix > Incidental Mutation

Incidental Mutation 'R0582:Dscaml1'

56469

Institutional Source

Beutler Lab

Gene Symbol

Dscaml1

Ensembl Gene

ENSMUSG00000032087

Gene Name

DS cell adhesion molecule like 1

Synonyms

4921507G06Rik, 4930435C18Rik

MMRRC Submission

038772-MU

Accession Numbers

Genbank: NM_001081270; MGI: 2150309

Essential gene?

Possibly essential (E-score: 0.674) question?

Stock #

R0582 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

45426628-45753712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45668264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 370 (I370F)

Ref Sequence

ENSEMBL: ENSMUSP00000034592 (fasta)

Gene Model

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

AlphaFold

Q4VA61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034592
AA Change: I370F

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: I370F

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

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

100% (45/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,125,082 (GRCm38)		noncoding transcript	Het
Abcb5	A	T	12: 118,940,412 (GRCm38)	M186K	probably benign	Het
Afm	T	C	5: 90,524,780 (GRCm38)		probably benign	Het
Arfgef3	G	A	10: 18,611,290 (GRCm38)	A1332V	probably damaging	Het
Atp11a	T	C	8: 12,831,214 (GRCm38)	S451P	probably benign	Het
Birc6	T	A	17: 74,643,337 (GRCm38)	V3189E	probably damaging	Het
Ccdc150	C	T	1: 54,329,511 (GRCm38)	A626V	probably benign	Het
Ccdc50	G	A	16: 27,444,659 (GRCm38)		probably benign	Het
Cntln	T	C	4: 84,884,741 (GRCm38)	S93P	probably damaging	Het
Ctnna2	C	A	6: 77,758,417 (GRCm38)	V106L	probably benign	Het
Ctnnal1	G	C	4: 56,813,228 (GRCm38)	Q668E	probably damaging	Het
Cyp1a2	G	A	9: 57,680,246 (GRCm38)		probably benign	Het
Dnah8	A	G	17: 30,718,961 (GRCm38)	D1604G	probably benign	Het
Ears2	T	C	7: 122,055,658 (GRCm38)	E129G	probably benign	Het
Gm4981	A	T	10: 58,235,686 (GRCm38)	S235R	probably benign	Het
Igsf10	T	C	3: 59,319,767 (GRCm38)	I2162V	probably benign	Het
Ints9	C	T	14: 64,980,149 (GRCm38)	P42S	probably damaging	Het
Ipp	T	C	4: 116,515,467 (GRCm38)	L231S	probably damaging	Het
Lyn	T	A	4: 3,743,296 (GRCm38)	L72Q	probably damaging	Het
Nfe2l2	T	A	2: 75,676,768 (GRCm38)	E329D	probably damaging	Het
Olfr628	G	A	7: 103,732,673 (GRCm38)	C249Y	possibly damaging	Het
Olfr92	G	C	17: 37,111,455 (GRCm38)	L176V	probably benign	Het
Pdyn	A	C	2: 129,689,738 (GRCm38)	L44R	probably damaging	Het
Pkd1l1	A	G	11: 8,931,699 (GRCm38)		probably benign	Het
Prpf40a	A	T	2: 53,145,692 (GRCm38)	F695L	probably damaging	Het
Rnf217	A	G	10: 31,608,767 (GRCm38)	Y140H	possibly damaging	Het
Sema6c	C	T	3: 95,169,197 (GRCm38)	R265C	probably damaging	Het
Slc7a8	C	A	14: 54,758,444 (GRCm38)	C167F	probably damaging	Het
Snap47	A	T	11: 59,428,433 (GRCm38)	L293*	probably null	Het
Snx3	A	T	10: 42,533,280 (GRCm38)		probably benign	Het
Sycp2l	T	A	13: 41,137,955 (GRCm38)		probably benign	Het
Taar3	A	G	10: 23,949,817 (GRCm38)	Y87C	probably damaging	Het
Tm4sf4	T	C	3: 57,433,857 (GRCm38)		probably benign	Het
Tssc4	T	C	7: 143,070,509 (GRCm38)	S185P	probably damaging	Het
Ttc28	G	T	5: 111,183,296 (GRCm38)	A430S	probably damaging	Het
Vmn2r27	T	C	6: 124,224,290 (GRCm38)	D236G	probably benign	Het
Vps54	G	T	11: 21,300,137 (GRCm38)	D508Y	probably damaging	Het
Wdr53	G	A	16: 32,251,908 (GRCm38)	V24M	probably damaging	Het
Xirp2	T	G	2: 67,508,866 (GRCm38)	L484V	probably benign	Het
Zfyve26	T	C	12: 79,246,222 (GRCm38)	D2051G	probably damaging	Het

Other mutations in Dscaml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Dscaml1	APN	9	45,670,200 (GRCm38)	nonsense	probably null
IGL00497:Dscaml1	APN	9	45,752,238 (GRCm38)	missense	probably damaging	1.00
IGL00895:Dscaml1	APN	9	45,751,253 (GRCm38)	missense	probably damaging	0.99
IGL01011:Dscaml1	APN	9	45,683,672 (GRCm38)	missense	possibly damaging	0.76
IGL01086:Dscaml1	APN	9	45,702,662 (GRCm38)	splice site	probably benign
IGL01125:Dscaml1	APN	9	45,749,632 (GRCm38)	critical splice acceptor site	probably null
IGL01132:Dscaml1	APN	9	45,752,328 (GRCm38)	nonsense	probably null
IGL01356:Dscaml1	APN	9	45,746,857 (GRCm38)	missense	probably benign	0.03
IGL01459:Dscaml1	APN	9	45,742,683 (GRCm38)	nonsense	probably null
IGL01552:Dscaml1	APN	9	45,447,908 (GRCm38)	missense	probably damaging	1.00
IGL02033:Dscaml1	APN	9	45,683,782 (GRCm38)	missense	probably damaging	1.00
IGL02044:Dscaml1	APN	9	45,746,943 (GRCm38)	nonsense	probably null
IGL02095:Dscaml1	APN	9	45,447,703 (GRCm38)	missense	probably damaging	1.00
IGL02166:Dscaml1	APN	9	45,683,701 (GRCm38)	missense	probably damaging	0.98
IGL02262:Dscaml1	APN	9	45,732,080 (GRCm38)	missense	probably benign	0.44
IGL02262:Dscaml1	APN	9	45,745,116 (GRCm38)	missense	probably benign
IGL02340:Dscaml1	APN	9	45,670,176 (GRCm38)	missense	possibly damaging	0.66
IGL02604:Dscaml1	APN	9	45,744,328 (GRCm38)	unclassified	probably benign
IGL02619:Dscaml1	APN	9	45,447,796 (GRCm38)	missense	probably damaging	1.00
IGL02805:Dscaml1	APN	9	45,447,897 (GRCm38)	missense	probably damaging	0.98
IGL03409:Dscaml1	APN	9	45,670,103 (GRCm38)	missense	probably damaging	1.00
D3080:Dscaml1	UTSW	9	45,684,325 (GRCm38)	missense	probably benign	0.44
IGL03050:Dscaml1	UTSW	9	45,742,999 (GRCm38)	missense	probably damaging	1.00
R0149:Dscaml1	UTSW	9	45,742,680 (GRCm38)	nonsense	probably null
R0629:Dscaml1	UTSW	9	45,721,418 (GRCm38)	missense	probably damaging	0.98
R0632:Dscaml1	UTSW	9	45,732,134 (GRCm38)	missense	probably benign	0.06
R0815:Dscaml1	UTSW	9	45,745,074 (GRCm38)	missense	probably benign	0.00
R1162:Dscaml1	UTSW	9	45,752,349 (GRCm38)	splice site	probably benign
R1449:Dscaml1	UTSW	9	45,742,223 (GRCm38)	missense	possibly damaging	0.95
R1474:Dscaml1	UTSW	9	45,685,221 (GRCm38)	missense	probably damaging	1.00
R1481:Dscaml1	UTSW	9	45,672,643 (GRCm38)	missense	probably benign	0.01
R1533:Dscaml1	UTSW	9	45,450,584 (GRCm38)	missense	probably damaging	0.99
R1542:Dscaml1	UTSW	9	45,749,440 (GRCm38)	missense	possibly damaging	0.84
R1572:Dscaml1	UTSW	9	45,721,333 (GRCm38)	missense	probably benign	0.00
R1627:Dscaml1	UTSW	9	45,753,147 (GRCm38)	missense	probably damaging	1.00
R1634:Dscaml1	UTSW	9	45,672,749 (GRCm38)	missense	probably damaging	1.00
R1713:Dscaml1	UTSW	9	45,752,690 (GRCm38)	missense	possibly damaging	0.49
R1777:Dscaml1	UTSW	9	45,683,756 (GRCm38)	missense	possibly damaging	0.58
R1812:Dscaml1	UTSW	9	45,751,286 (GRCm38)	critical splice donor site	probably null
R1834:Dscaml1	UTSW	9	45,683,632 (GRCm38)	missense	probably benign	0.00
R1907:Dscaml1	UTSW	9	45,740,480 (GRCm38)	missense	probably damaging	1.00
R1953:Dscaml1	UTSW	9	45,670,224 (GRCm38)	missense	probably benign	0.01
R2056:Dscaml1	UTSW	9	45,750,132 (GRCm38)	missense	probably damaging	0.99
R2193:Dscaml1	UTSW	9	45,685,234 (GRCm38)	missense	probably benign	0.21
R2497:Dscaml1	UTSW	9	45,745,078 (GRCm38)	missense	probably benign	0.00
R3768:Dscaml1	UTSW	9	45,732,137 (GRCm38)	missense	possibly damaging	0.94
R3891:Dscaml1	UTSW	9	45,717,484 (GRCm38)	missense	possibly damaging	0.84
R4110:Dscaml1	UTSW	9	45,732,068 (GRCm38)	missense	probably benign	0.07
R4706:Dscaml1	UTSW	9	45,450,580 (GRCm38)	missense	probably damaging	1.00
R4716:Dscaml1	UTSW	9	45,450,592 (GRCm38)	missense	probably damaging	1.00
R4719:Dscaml1	UTSW	9	45,672,695 (GRCm38)	missense	probably benign	0.13
R4770:Dscaml1	UTSW	9	45,670,106 (GRCm38)	missense	probably damaging	1.00
R4924:Dscaml1	UTSW	9	45,745,189 (GRCm38)	missense	probably damaging	1.00
R5167:Dscaml1	UTSW	9	45,717,432 (GRCm38)	missense	probably damaging	1.00
R5346:Dscaml1	UTSW	9	45,450,559 (GRCm38)	missense	possibly damaging	0.63
R5737:Dscaml1	UTSW	9	45,745,185 (GRCm38)	missense	probably damaging	0.99
R5977:Dscaml1	UTSW	9	45,721,298 (GRCm38)	missense	probably benign	0.19
R6073:Dscaml1	UTSW	9	45,450,583 (GRCm38)	missense	probably benign	0.22
R6276:Dscaml1	UTSW	9	45,668,160 (GRCm38)	missense	possibly damaging	0.62
R6415:Dscaml1	UTSW	9	45,683,677 (GRCm38)	nonsense	probably null
R6527:Dscaml1	UTSW	9	45,712,184 (GRCm38)	nonsense	probably null
R6582:Dscaml1	UTSW	9	45,752,806 (GRCm38)	missense	probably benign	0.00
R6655:Dscaml1	UTSW	9	45,746,937 (GRCm38)	missense	probably benign	0.00
R6772:Dscaml1	UTSW	9	45,710,311 (GRCm38)	missense	probably damaging	1.00
R6799:Dscaml1	UTSW	9	45,450,583 (GRCm38)	missense	probably benign	0.22
R6892:Dscaml1	UTSW	9	45,683,830 (GRCm38)	missense	probably damaging	0.99
R6918:Dscaml1	UTSW	9	45,430,507 (GRCm38)	missense	probably benign
R6967:Dscaml1	UTSW	9	45,674,523 (GRCm38)	missense	probably damaging	0.97
R7214:Dscaml1	UTSW	9	45,670,139 (GRCm38)	missense	probably benign	0.01
R7286:Dscaml1	UTSW	9	45,742,746 (GRCm38)	critical splice donor site	probably null
R7315:Dscaml1	UTSW	9	45,745,125 (GRCm38)	missense	probably benign	0.00
R7338:Dscaml1	UTSW	9	45,674,504 (GRCm38)	missense	probably benign	0.12
R7343:Dscaml1	UTSW	9	45,752,916 (GRCm38)	missense	probably benign
R7395:Dscaml1	UTSW	9	45,702,405 (GRCm38)	missense	possibly damaging	0.73
R7439:Dscaml1	UTSW	9	45,710,326 (GRCm38)	missense	possibly damaging	0.94
R7484:Dscaml1	UTSW	9	45,749,446 (GRCm38)	splice site	probably null
R7545:Dscaml1	UTSW	9	45,685,383 (GRCm38)	missense	probably benign	0.11
R7979:Dscaml1	UTSW	9	45,683,731 (GRCm38)	missense	probably damaging	1.00
R8005:Dscaml1	UTSW	9	45,717,510 (GRCm38)	missense	probably damaging	1.00
R8181:Dscaml1	UTSW	9	45,746,842 (GRCm38)	missense	possibly damaging	0.86
R8262:Dscaml1	UTSW	9	45,747,140 (GRCm38)	intron	probably benign
R8428:Dscaml1	UTSW	9	45,742,586 (GRCm38)	missense	probably benign	0.00
R8725:Dscaml1	UTSW	9	45,430,461 (GRCm38)	missense	probably benign	0.00
R8727:Dscaml1	UTSW	9	45,430,461 (GRCm38)	missense	probably benign	0.00
R8796:Dscaml1	UTSW	9	45,447,728 (GRCm38)	missense	probably damaging	0.99
R8840:Dscaml1	UTSW	9	45,723,420 (GRCm38)	missense	probably damaging	0.99
R9291:Dscaml1	UTSW	9	45,447,953 (GRCm38)	missense	probably damaging	1.00
R9394:Dscaml1	UTSW	9	45,750,056 (GRCm38)	missense	possibly damaging	0.64
R9610:Dscaml1	UTSW	9	45,668,224 (GRCm38)	missense	possibly damaging	0.95
R9611:Dscaml1	UTSW	9	45,668,224 (GRCm38)	missense	possibly damaging	0.95
R9653:Dscaml1	UTSW	9	45,732,168 (GRCm38)	critical splice donor site	probably null
R9699:Dscaml1	UTSW	9	45,743,017 (GRCm38)	missense	probably damaging	0.97
X0058:Dscaml1	UTSW	9	45,752,128 (GRCm38)	missense	probably benign	0.00
Z1177:Dscaml1	UTSW	9	45,672,791 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TACCTCACTGTAAGCACGGGCAAG -3'
(R):5'- ACCAATGGCACCAGGACTGAAATG -3'

Sequencing Primer
(F):5'- TTCCACTCCCAGGAAGTGTG -3'
(R):5'- CCAGGACTGAAATGCAGAGC -3'

Posted On

2013-07-11