Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Slit3'

229224

Institutional Source

Beutler Lab

Gene Symbol

Slit3

Ensembl Gene

ENSMUSG00000056427

Gene Name

slit guidance ligand 3

Synonyms

Slit1, b2b2362.1Clo

MMRRC Submission

040082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R2077 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

35012283-35599334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35435575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 169 (I169F)

Ref Sequence

ENSEMBL: ENSMUSP00000066857 (fasta)

Gene Model

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

AlphaFold

Q9WVB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069837
AA Change: I169F

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: I169F

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: ENSMUST00000124438

Meta Mutation Damage Score

0.2190

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,183,604 (GRCm39)		probably benign	Het
Abhd16b	A	C	2: 181,135,209 (GRCm39)	D37A	probably benign	Het
Acp7	T	C	7: 28,328,907 (GRCm39)	E91G	probably damaging	Het
Alms1	T	A	6: 85,599,291 (GRCm39)	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,436,990 (GRCm39)	D620V	probably damaging	Het
Caps2	C	T	10: 112,035,632 (GRCm39)	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,186,794 (GRCm39)	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,265,630 (GRCm39)	L1434P	probably damaging	Het
Cdkl3	A	T	11: 51,917,666 (GRCm39)	E321V	probably damaging	Het
Clec2d	G	T	6: 129,160,153 (GRCm39)	V56L	possibly damaging	Het
Cops3	A	T	11: 59,715,136 (GRCm39)	S301T	possibly damaging	Het
Crygd	T	C	1: 65,102,405 (GRCm39)	D19G	probably damaging	Het
Dnah2	T	C	11: 69,387,432 (GRCm39)	I931M	possibly damaging	Het
Dst	A	T	1: 34,250,251 (GRCm39)	R4068S	probably damaging	Het
Fas	C	T	19: 34,297,953 (GRCm39)		probably benign	Het
G6pd2	T	A	5: 61,967,594 (GRCm39)	D456E	probably damaging	Het
Galnt18	G	A	7: 111,153,809 (GRCm39)	R272W	probably damaging	Het
Grb2	C	A	11: 115,536,651 (GRCm39)	G200W	probably damaging	Het
Herc4	A	G	10: 63,099,832 (GRCm39)	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,875,727 (GRCm39)	D92G	probably damaging	Het
Itih3	A	G	14: 30,631,792 (GRCm39)	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,600,560 (GRCm39)	N247D	probably benign	Het
Kcnd3	T	C	3: 105,574,315 (GRCm39)	V500A	probably benign	Het
Lrp2	C	T	2: 69,338,187 (GRCm39)	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,999,444 (GRCm39)	T22A	probably damaging	Het
Mdga2	A	G	12: 66,702,136 (GRCm39)	V355A	probably damaging	Het
Megf8	T	A	7: 25,053,163 (GRCm39)	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,974,448 (GRCm39)	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389 (GRCm39)	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,781,856 (GRCm39)	C534R	probably benign	Het
Nup155	A	G	15: 8,172,510 (GRCm39)	E832G	probably damaging	Het
Or5w11	A	G	2: 87,459,173 (GRCm39)	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,913,857 (GRCm39)	T289A	probably benign	Het
Ptprs	C	T	17: 56,741,990 (GRCm39)	R7Q	probably null	Het
Rab3ip	A	T	10: 116,754,865 (GRCm39)	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,049,323 (GRCm39)	F255I	unknown	Het
Senp6	T	C	9: 80,033,437 (GRCm39)	S475P	probably benign	Het
Shpk	T	C	11: 73,094,785 (GRCm39)	L67P	probably damaging	Het
Sik3	T	A	9: 46,130,801 (GRCm39)	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,265,020 (GRCm39)	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,848,685 (GRCm39)	V23A	probably benign	Het
Stxbp5l	A	G	16: 37,056,637 (GRCm39)	V379A	possibly damaging	Het
Tex2	T	C	11: 106,397,690 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,586,143 (GRCm39)	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,489,815 (GRCm39)	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,792,358 (GRCm39)	C562S	probably damaging	Het
Wipi1	T	C	11: 109,468,490 (GRCm39)	N368S	probably benign	Het
Zbtb41	T	C	1: 139,351,831 (GRCm39)	S315P	probably 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
IGL02146:Slit3	APN	11	35,125,675 (GRCm39)	missense	possibly damaging	0.71
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTCAGACAGTCAGAGAG -3'
(R):5'- AGCATTGCAGCAGAAGACCC -3'

Sequencing Primer
(F):5'- TCCCTCAGACAGTCAGAGAGAAGAG -3'
(R):5'- TTGCAGCAGAAGACCCAGAAAC -3'

Posted On

2014-09-17