Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02146:Slit3'

281753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slit3

Ensembl Gene

ENSMUSG00000056427

Gene Name

slit guidance ligand 3

Synonyms

Slit1, b2b2362.1Clo

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

35012283-35599334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35125675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 118 (K118R)

Ref Sequence

ENSEMBL: ENSMUSP00000066857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069837]

AlphaFold

Q9WVB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069837
AA Change: K118R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: K118R

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
LRRNT	33	65	2.12e-8	SMART
LRR	59	83	1.37e2	SMART
LRR_TYP	84	107	1.12e-3	SMART
LRR_TYP	108	131	7.78e-3	SMART
LRR_TYP	132	155	5.42e-2	SMART
LRR	156	179	5.88e0	SMART
LRR	180	203	7.55e-1	SMART
LRRCT	215	264	1.33e-6	SMART
LRRNT	279	311	6.79e-7	SMART
LRR	305	329	1.16e2	SMART
LRR	330	353	1.26e1	SMART
LRR_TYP	354	377	2.79e-4	SMART
LRR	378	401	4.05e-1	SMART
LRR	402	425	4.05e-1	SMART
LRRCT	437	486	7.75e-8	SMART
LRRNT	504	536	1.95e-7	SMART
LRR_TYP	556	579	7.49e-5	SMART
LRR	581	603	6.41e1	SMART
LRR_TYP	604	627	2.53e-2	SMART
LRR	628	651	1.76e-1	SMART
LRRCT	663	712	2.52e-7	SMART
LRRNT	724	756	3e-8	SMART
LRR	774	797	2.14e0	SMART
LRR_TYP	798	821	2.95e-3	SMART
LRR_TYP	822	845	2.43e-4	SMART
LRRCT	857	906	1.12e-13	SMART
EGF	919	953	6.86e-4	SMART
EGF	958	994	8.84e-7	SMART
EGF	999	1032	1.13e-4	SMART
EGF	1037	1072	2.3e-5	SMART
EGF_CA	1074	1110	5.92e-8	SMART
EGF	1122	1155	3.79e-6	SMART
LamG	1178	1314	3.16e-34	SMART
EGF	1331	1365	2.19e-2	SMART
EGF	1371	1403	1.13e-4	SMART
EGF	1411	1444	5.57e-4	SMART
CT	1455	1523	4.56e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156571

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 secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,023 (GRCm39)	C784R	possibly damaging	Het
Akp3	A	T	1: 87,054,297 (GRCm39)	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,418,030 (GRCm39)	R730S	probably benign	Het
Bag6	A	G	17: 35,355,191 (GRCm39)	T30A	probably damaging	Het
Blk	G	T	14: 63,611,648 (GRCm39)	P429H	probably damaging	Het
Bmp2k	T	A	5: 97,212,689 (GRCm39)	M524K	unknown	Het
Bst1	T	A	5: 43,983,678 (GRCm39)	H221Q	probably damaging	Het
Ces2g	T	C	8: 105,693,576 (GRCm39)	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,856,326 (GRCm39)	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,661,414 (GRCm39)	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,410,410 (GRCm39)	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,252,429 (GRCm39)	T104A	probably damaging	Het
Dnaaf11	C	T	15: 66,361,374 (GRCm39)	W42*	probably null	Het
Dnaaf11	C	A	15: 66,361,375 (GRCm39)	W42L	probably benign	Het
Dnah9	C	T	11: 65,818,526 (GRCm39)	V3271M	probably damaging	Het
Eed	T	A	7: 89,618,803 (GRCm39)	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,910,878 (GRCm39)	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,426,264 (GRCm39)	T178A	probably benign	Het
Galnt4	A	C	10: 98,945,563 (GRCm39)	K429N	possibly damaging	Het
Ints6	T	A	14: 62,996,709 (GRCm39)	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,360,916 (GRCm39)	S981T	probably damaging	Het
Itga9	T	A	9: 118,663,400 (GRCm39)	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,336,249 (GRCm39)	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,806,582 (GRCm39)	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,444,371 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,129,927 (GRCm39)	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,318,879 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Myo18b	A	T	5: 112,991,151 (GRCm39)	M942K	probably damaging	Het
Myzap	T	A	9: 71,471,730 (GRCm39)	T94S	probably benign	Het
Nebl	C	A	2: 17,353,679 (GRCm39)	R957S	probably damaging	Het
Nexn	A	T	3: 151,952,885 (GRCm39)	D278E	probably benign	Het
Nlgn1	A	T	3: 25,966,846 (GRCm39)	N222K	probably damaging	Het
Or6c76	T	A	10: 129,612,727 (GRCm39)		probably benign	Het
Or8d1	G	A	9: 38,766,654 (GRCm39)	A99T	probably benign	Het
Osbpl6	A	T	2: 76,380,094 (GRCm39)	R79S	possibly damaging	Het
Phip	T	C	9: 82,763,771 (GRCm39)	I1268M	probably benign	Het
Pkd2	G	T	5: 104,637,157 (GRCm39)	R590L	probably damaging	Het
Reg2	G	A	6: 78,382,568 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,662,934 (GRCm39)	D26E	probably damaging	Het
Ska1	A	G	18: 74,329,981 (GRCm39)	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,299,169 (GRCm39)	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,330,460 (GRCm39)	T155S	probably benign	Het
Snap23	T	G	2: 120,429,792 (GRCm39)	N212K	probably damaging	Het
Snx13	T	A	12: 35,151,078 (GRCm39)	D346E	probably benign	Het
Sumf1	C	A	6: 108,150,392 (GRCm39)		probably null	Het
Susd2	T	C	10: 75,474,267 (GRCm39)	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,646,569 (GRCm39)	I821T	probably benign	Het
Tll2	C	A	19: 41,086,276 (GRCm39)	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,012,104 (GRCm39)	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,387,170 (GRCm39)	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,479 (GRCm39)	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,029,076 (GRCm39)	L337F	probably benign	Het
Zfp128	A	C	7: 12,623,959 (GRCm39)	K109T	possibly damaging	Het

Other mutations in Slit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Slit3	APN	11	35,512,981 (GRCm39)	missense	probably damaging	1.00
IGL01324:Slit3	APN	11	35,501,529 (GRCm39)	missense	probably damaging	1.00
IGL01612:Slit3	APN	11	35,591,211 (GRCm39)	missense	possibly damaging	0.95
IGL02145:Slit3	APN	11	35,520,569 (GRCm39)	missense	probably damaging	0.99
IGL02430:Slit3	APN	11	35,068,601 (GRCm39)	splice site	probably null
IGL02528:Slit3	APN	11	35,469,801 (GRCm39)	missense	probably benign
IGL02530:Slit3	APN	11	35,598,969 (GRCm39)	makesense	probably null
IGL02640:Slit3	APN	11	35,591,172 (GRCm39)	missense	probably benign	0.10
IGL02819:Slit3	APN	11	35,062,417 (GRCm39)	missense	possibly damaging	0.71
IGL02839:Slit3	APN	11	35,539,874 (GRCm39)	missense	possibly damaging	0.46
IGL03150:Slit3	APN	11	35,399,084 (GRCm39)	missense	possibly damaging	0.88
IGL03161:Slit3	APN	11	35,591,241 (GRCm39)	missense	probably benign	0.10
IGL03336:Slit3	APN	11	35,560,928 (GRCm39)	missense	probably damaging	0.97
Bloated	UTSW	11	35,524,779 (GRCm39)	missense	possibly damaging	0.55
Quellung	UTSW	11	35,542,647 (GRCm39)	critical splice donor site	probably null
IGL02988:Slit3	UTSW	11	35,598,890 (GRCm39)	missense	probably damaging	0.99
PIT4791001:Slit3	UTSW	11	35,552,072 (GRCm39)	missense	possibly damaging	0.85
R0013:Slit3	UTSW	11	35,598,745 (GRCm39)	missense	probably benign
R0013:Slit3	UTSW	11	35,598,745 (GRCm39)	missense	probably benign
R0334:Slit3	UTSW	11	35,469,928 (GRCm39)	missense	probably damaging	0.97
R0385:Slit3	UTSW	11	35,591,109 (GRCm39)	missense	probably damaging	0.98
R0840:Slit3	UTSW	11	35,514,263 (GRCm39)	splice site	probably benign
R1065:Slit3	UTSW	11	35,012,462 (GRCm39)	missense	possibly damaging	0.86
R1364:Slit3	UTSW	11	35,560,934 (GRCm39)	missense	probably benign
R1476:Slit3	UTSW	11	35,577,126 (GRCm39)	missense	probably damaging	0.97
R1508:Slit3	UTSW	11	35,461,448 (GRCm39)	missense	probably damaging	1.00
R1665:Slit3	UTSW	11	35,125,733 (GRCm39)	missense	possibly damaging	0.71
R1692:Slit3	UTSW	11	35,550,171 (GRCm39)	missense	probably damaging	1.00
R1696:Slit3	UTSW	11	35,566,750 (GRCm39)	missense	probably damaging	0.99
R1727:Slit3	UTSW	11	35,520,659 (GRCm39)	missense	probably damaging	1.00
R1752:Slit3	UTSW	11	35,455,480 (GRCm39)	missense	probably damaging	0.98
R1970:Slit3	UTSW	11	35,521,668 (GRCm39)	critical splice acceptor site	probably null
R2077:Slit3	UTSW	11	35,435,575 (GRCm39)	missense	possibly damaging	0.88
R2126:Slit3	UTSW	11	35,579,506 (GRCm39)	missense	probably damaging	1.00
R2143:Slit3	UTSW	11	35,503,088 (GRCm39)	splice site	probably null
R2162:Slit3	UTSW	11	35,579,509 (GRCm39)	missense	probably null	1.00
R2873:Slit3	UTSW	11	35,435,620 (GRCm39)	nonsense	probably null
R3813:Slit3	UTSW	11	35,566,806 (GRCm39)	missense	probably damaging	1.00
R3831:Slit3	UTSW	11	35,579,509 (GRCm39)	missense	probably null	1.00
R3832:Slit3	UTSW	11	35,579,509 (GRCm39)	missense	probably null	1.00
R3833:Slit3	UTSW	11	35,579,509 (GRCm39)	missense	probably null	1.00
R3839:Slit3	UTSW	11	35,399,064 (GRCm39)	missense	probably benign	0.10
R4152:Slit3	UTSW	11	35,589,147 (GRCm39)	missense	probably damaging	0.98
R4387:Slit3	UTSW	11	35,574,875 (GRCm39)	missense	probably benign	0.12
R4795:Slit3	UTSW	11	35,542,647 (GRCm39)	critical splice donor site	probably null
R4910:Slit3	UTSW	11	35,523,549 (GRCm39)	missense	probably damaging	0.99
R4933:Slit3	UTSW	11	35,579,420 (GRCm39)	missense	probably damaging	1.00
R5048:Slit3	UTSW	11	35,479,812 (GRCm39)	missense	probably damaging	1.00
R5106:Slit3	UTSW	11	35,503,194 (GRCm39)	missense	probably damaging	1.00
R5138:Slit3	UTSW	11	35,479,812 (GRCm39)	missense	probably damaging	1.00
R5218:Slit3	UTSW	11	35,575,002 (GRCm39)	critical splice donor site	probably null
R5338:Slit3	UTSW	11	35,512,975 (GRCm39)	missense	probably benign
R5354:Slit3	UTSW	11	35,566,740 (GRCm39)	missense	probably damaging	1.00
R5436:Slit3	UTSW	11	35,598,738 (GRCm39)	missense	probably benign	0.05
R5896:Slit3	UTSW	11	35,598,932 (GRCm39)	missense	probably damaging	0.99
R5933:Slit3	UTSW	11	35,520,578 (GRCm39)	missense	probably benign	0.04
R5963:Slit3	UTSW	11	35,591,063 (GRCm39)	missense	probably damaging	1.00
R5964:Slit3	UTSW	11	35,591,063 (GRCm39)	missense	probably damaging	1.00
R6125:Slit3	UTSW	11	35,461,560 (GRCm39)	critical splice donor site	probably null
R6153:Slit3	UTSW	11	35,591,310 (GRCm39)	missense	possibly damaging	0.69
R6484:Slit3	UTSW	11	35,552,125 (GRCm39)	missense	probably benign
R6526:Slit3	UTSW	11	35,552,119 (GRCm39)	missense	probably benign	0.33
R6797:Slit3	UTSW	11	35,524,779 (GRCm39)	missense	possibly damaging	0.55
R6887:Slit3	UTSW	11	35,435,633 (GRCm39)	splice site	probably null
R7067:Slit3	UTSW	11	35,399,057 (GRCm39)	missense	probably benign	0.04
R7150:Slit3	UTSW	11	35,461,546 (GRCm39)	missense	probably damaging	1.00
R7228:Slit3	UTSW	11	35,490,245 (GRCm39)	missense	probably damaging	1.00
R7232:Slit3	UTSW	11	35,501,516 (GRCm39)	missense	possibly damaging	0.87
R7418:Slit3	UTSW	11	35,577,255 (GRCm39)	missense	possibly damaging	0.64
R7545:Slit3	UTSW	11	35,591,139 (GRCm39)	missense	possibly damaging	0.52
R7727:Slit3	UTSW	11	35,574,871 (GRCm39)	missense	probably damaging	1.00
R7820:Slit3	UTSW	11	35,591,235 (GRCm39)	missense	probably benign	0.23
R8177:Slit3	UTSW	11	35,469,919 (GRCm39)	missense	probably damaging	0.99
R8179:Slit3	UTSW	11	35,554,903 (GRCm39)	missense	probably benign	0.31
R8416:Slit3	UTSW	11	35,399,062 (GRCm39)	missense	probably benign	0.08
R8417:Slit3	UTSW	11	35,501,438 (GRCm39)	missense	probably damaging	0.99
R8476:Slit3	UTSW	11	35,520,596 (GRCm39)	missense	possibly damaging	0.70
R8785:Slit3	UTSW	11	35,560,968 (GRCm39)	missense	probably damaging	0.98
R8955:Slit3	UTSW	11	35,589,207 (GRCm39)	missense	probably damaging	0.97
R9040:Slit3	UTSW	11	35,594,136 (GRCm39)	missense	probably damaging	0.98
R9068:Slit3	UTSW	11	35,574,917 (GRCm39)	missense	probably damaging	1.00
R9088:Slit3	UTSW	11	35,012,463 (GRCm39)	missense	possibly damaging	0.86
R9266:Slit3	UTSW	11	35,598,808 (GRCm39)	missense	probably damaging	0.98
R9539:Slit3	UTSW	11	35,589,155 (GRCm39)	nonsense	probably null
R9636:Slit3	UTSW	11	35,594,088 (GRCm39)	missense	probably damaging	0.97
X0028:Slit3	UTSW	11	35,455,464 (GRCm39)	missense	probably damaging	0.99
Z1176:Slit3	UTSW	11	35,598,751 (GRCm39)	nonsense	probably null

Posted On

2015-04-16