Mutagenetix > Incidental Mutation

Incidental Mutation 'R1508:Slit3'

168077

Institutional Source

Beutler Lab

Gene Symbol

Slit3

Ensembl Gene

ENSMUSG00000056427

Gene Name

slit guidance ligand 3

Synonyms

Slit1, b2b2362.1Clo

MMRRC Submission

040869-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R1508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35012283-35599334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35461448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 228 (D228V)

Ref Sequence

ENSEMBL: ENSMUSP00000066857 (fasta)

Gene Model

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

AlphaFold

Q9WVB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069837
AA Change: D228V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: D228V

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	T	C	4: 111,513,595 (GRCm39)	I447T	probably benign	Het
Albfm1	A	G	5: 90,729,780 (GRCm39)	E401G	probably benign	Het
Alpk2	C	A	18: 65,482,376 (GRCm39)	G544V	probably damaging	Het
Apob	T	C	12: 8,061,481 (GRCm39)	I3321T	possibly damaging	Het
Ccdc47	C	T	11: 106,093,242 (GRCm39)	D70N	probably damaging	Het
Ceacam13	T	A	7: 17,744,996 (GRCm39)	V22D	possibly damaging	Het
Cep76	A	G	18: 67,756,358 (GRCm39)	M491T	probably damaging	Het
Clec4a3	A	T	6: 122,944,467 (GRCm39)	N171I	probably benign	Het
Col20a1	A	G	2: 180,634,370 (GRCm39)	I112V	probably damaging	Het
Col4a4	A	T	1: 82,433,557 (GRCm39)	L1462H	unknown	Het
Cubn	A	G	2: 13,431,916 (GRCm39)	F1226L	probably benign	Het
Cyp4a31	T	A	4: 115,422,250 (GRCm39)	I77K	possibly damaging	Het
Dcaf1	A	T	9: 106,731,376 (GRCm39)	T618S	probably damaging	Het
Echdc3	A	T	2: 6,211,231 (GRCm39)	S129T	probably benign	Het
Efcab3	T	C	11: 104,601,503 (GRCm39)	V272A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat1	T	C	8: 45,479,899 (GRCm39)	F2982L	probably benign	Het
Gm9476	A	T	10: 100,142,700 (GRCm39)		noncoding transcript	Het
Golga1	A	G	2: 38,913,261 (GRCm39)	M542T	probably benign	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
Jazf1	G	A	6: 52,789,166 (GRCm39)	H103Y	probably damaging	Het
Klhl12	T	C	1: 134,416,712 (GRCm39)	V478A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,330 (GRCm39)	T220S	probably damaging	Het
Myocd	C	T	11: 65,075,342 (GRCm39)	C594Y	probably damaging	Het
Nf1	A	G	11: 79,331,735 (GRCm39)	E700G	probably damaging	Het
Or52z15	T	C	7: 103,332,678 (GRCm39)	V251A	possibly damaging	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Papln	A	G	12: 83,829,690 (GRCm39)	Q937R	probably damaging	Het
Pex14	T	C	4: 149,052,029 (GRCm39)	R147G	probably damaging	Het
Plppr3	A	T	10: 79,703,374 (GRCm39)	Y37N	probably damaging	Het
Polr1b	A	G	2: 128,955,654 (GRCm39)	T522A	probably benign	Het
Ppp3cb	T	C	14: 20,574,492 (GRCm39)	N201S	probably damaging	Het
Prf1	A	G	10: 61,139,329 (GRCm39)	D429G	probably damaging	Het
Ptprn2	T	C	12: 117,148,342 (GRCm39)	S701P	probably damaging	Het
Rp1l1	C	T	14: 64,268,341 (GRCm39)	T1309I	possibly damaging	Het
Sipa1l1	T	A	12: 82,487,667 (GRCm39)	M1647K	probably damaging	Het
Skint11	T	C	4: 114,088,963 (GRCm39)		probably null	Het
Slc8a2	T	C	7: 15,874,522 (GRCm39)	Y257H	probably benign	Het
Slfn1	T	A	11: 83,012,181 (GRCm39)	I99N	probably damaging	Het
Slit2	A	G	5: 48,349,591 (GRCm39)	T282A	probably damaging	Het
Specc1l	A	G	10: 75,143,072 (GRCm39)	N1031S	probably benign	Het
Supt6	A	G	11: 78,107,029 (GRCm39)		probably null	Het
Tdrd1	G	A	19: 56,839,790 (GRCm39)	E617K	probably damaging	Het
Tex15	C	G	8: 34,066,880 (GRCm39)	F2103L	probably damaging	Het
Trim21	T	A	7: 102,208,783 (GRCm39)	Q312L	possibly damaging	Het
Trim56	C	T	5: 137,142,791 (GRCm39)	A242T	probably benign	Het
Usp4	T	C	9: 108,249,873 (GRCm39)	V467A	probably benign	Het
Vmn2r65	T	A	7: 84,589,886 (GRCm39)	I677L	probably benign	Het
Vstm4	T	C	14: 32,585,511 (GRCm39)	V26A	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfat	T	A	15: 68,050,600 (GRCm39)	K807I	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
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

Predicted Primers

PCR Primer
(F):5'- TATCATGCTAGGGACACGTCACCAG -3'
(R):5'- GAATGCAAGCTCTCCAGCTCCTTAC -3'

Sequencing Primer
(F):5'- GACACGTCACCAGAGGTC -3'
(R):5'- CGTTTATACCAAGCTGTGGGATG -3'

Posted On

2014-04-13