Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Dscaml1'

521989

Institutional Source

Beutler Lab

Gene Symbol

Dscaml1

Ensembl Gene

ENSMUSG00000032087

Gene Name

DS cell adhesion molecule like 1

Synonyms

4921507G06Rik, 4930435C18Rik

MMRRC Submission

044653-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45338735-45665011 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 45623482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 83 (Q83*)

Gene Model

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

AlphaFold

Q4VA61

Predicted Effect

probably null
Transcript: ENSMUST00000034592
AA Change: Q1054*

SMART Domains

Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: Q1054*

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 null
Transcript: ENSMUST00000216685
AA Change: Q83*

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,288 (GRCm39)	T826A	probably damaging	Het
Abca16	T	A	7: 120,076,995 (GRCm39)	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,154,132 (GRCm39)		probably null	Het
Adgrl3	A	C	5: 81,935,364 (GRCm39)	E1299A	probably damaging	Het
Amd2	A	C	10: 35,586,802 (GRCm39)	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,506,722 (GRCm39)		probably null	Het
Dhx29	G	T	13: 113,069,076 (GRCm39)	K135N	probably damaging	Het
Dlg5	T	A	14: 24,240,516 (GRCm39)	D245V	possibly damaging	Het
Dsp	T	A	13: 38,379,849 (GRCm39)	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,125,095 (GRCm39)	V369A	probably benign	Het
Flacc1	T	C	1: 58,731,572 (GRCm39)	M1V	probably null	Het
Gbe1	T	A	16: 70,230,560 (GRCm39)		probably null	Het
Gm7298	A	G	6: 121,746,669 (GRCm39)	K600R	probably benign	Het
Heatr4	C	T	12: 84,026,537 (GRCm39)	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,689,589 (GRCm39)	V651A	possibly damaging	Het
Jam3	C	T	9: 27,066,640 (GRCm39)	R8Q	unknown	Het
Letm2	A	G	8: 26,082,522 (GRCm39)		probably benign	Het
Lmod3	T	C	6: 97,224,339 (GRCm39)	D494G	probably benign	Het
Mast2	T	C	4: 116,172,136 (GRCm39)	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,500,101 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,077,274 (GRCm39)	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,214,408 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,753,433 (GRCm38)	H1103R	probably benign	Het
Nudt14	T	A	12: 112,898,507 (GRCm39)	I198F	possibly damaging	Het
Or11j4	T	A	14: 50,630,885 (GRCm39)	L224*	probably null	Het
Or13p3	T	A	4: 118,567,045 (GRCm39)	F147Y	possibly damaging	Het
Or1n1b	T	C	2: 36,780,594 (GRCm39)	T89A	probably benign	Het
Osbpl8	T	C	10: 111,129,066 (GRCm39)	I884T	probably benign	Het
Podxl2	T	C	6: 88,819,912 (GRCm39)	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949 (GRCm39)	Y151C	probably damaging	Het
Prss42	T	C	9: 110,629,924 (GRCm39)	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,379,794 (GRCm39)	I116V	probably damaging	Het
Psme4	A	C	11: 30,782,175 (GRCm39)	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,664,420 (GRCm39)	V65E	probably damaging	Het
Ros1	T	C	10: 52,019,473 (GRCm39)	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,673,773 (GRCm39)	T547M	probably damaging	Het
Slfn3	T	A	11: 83,103,932 (GRCm39)	C268S	probably benign	Het
Smc5	T	C	19: 23,205,554 (GRCm39)	Q794R	probably benign	Het
Sqor	A	G	2: 122,651,206 (GRCm39)	Y434C	probably damaging	Het
Steap4	T	A	5: 8,028,502 (GRCm39)	L360H	probably damaging	Het
Sycp1	A	G	3: 102,806,203 (GRCm39)	V496A	probably benign	Het
Tmem161b	T	G	13: 84,420,383 (GRCm39)	M128R	probably benign	Het
Tmem59l	T	C	8: 70,938,775 (GRCm39)	E102G	probably damaging	Het
Tnks	A	T	8: 35,340,247 (GRCm39)	V457D	probably benign	Het
Tomt	A	G	7: 101,549,599 (GRCm39)	Y230H	probably damaging	Het
Trim37	A	G	11: 87,080,910 (GRCm39)	N561D	probably damaging	Het
V1ra8	T	A	6: 90,180,295 (GRCm39)	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,199,575 (GRCm39)	V14A	probably benign	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwa8	A	T	14: 79,184,653 (GRCm39)	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp984	T	C	4: 147,840,381 (GRCm39)	N157D	probably benign	Het
Zzef1	G	A	11: 72,765,816 (GRCm39)	D1448N	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
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
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'- GGTCCCACTCTGATAAACAGC -3'
(R):5'- ACCCTGATGCTTTAGGGCAC -3'

Sequencing Primer
(F):5'- AACAGCTACCAACTCTGTCATCTGTG -3'
(R):5'- CAATGTTTGAGAAGGGACCTTTCC -3'

Posted On

2018-06-06