Mutagenetix > Incidental Mutation

Incidental Mutation 'R8416:Slit3'

652954

Institutional Source

Beutler Lab

Gene Symbol

Slit3

Ensembl Gene

ENSMUSG00000056427

Gene Name

slit guidance ligand 3

Synonyms

Slit1, b2b2362.1Clo

MMRRC Submission

067770-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R8416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35012283-35599334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35399062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 142 (E142D)

Ref Sequence

ENSEMBL: ENSMUSP00000066857 (fasta)

Gene Model

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

AlphaFold

Q9WVB4

Predicted Effect

probably benign
Transcript: ENSMUST00000069837
AA Change: E142D

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: E142D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,369,023 (GRCm39)	N173S	probably benign	Het
Agps	A	G	2: 75,684,547 (GRCm39)	I172V	probably benign	Het
Amz1	G	A	5: 140,737,731 (GRCm39)	W330*	probably null	Het
Asap1	A	T	15: 64,002,072 (GRCm39)	M413K	possibly damaging	Het
Bhmt1b	T	C	18: 87,774,687 (GRCm39)	V70A	probably damaging	Het
Ccdc83	A	T	7: 89,885,513 (GRCm39)	W291R	unknown	Het
Cdh19	A	T	1: 110,853,610 (GRCm39)	M277K	probably benign	Het
Clca3a1	C	A	3: 144,460,914 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,408,423 (GRCm39)	T138A	probably benign	Het
Csnka2ip	T	C	16: 64,300,295 (GRCm39)	D23G		Het
Cxcr5	A	T	9: 44,425,583 (GRCm39)	F25I	probably benign	Het
Defb33	T	A	8: 21,387,651 (GRCm39)	*63R	probably null	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Elac1	A	G	18: 73,871,927 (GRCm39)	I356T	probably damaging	Het
Fam135a	C	T	1: 24,067,675 (GRCm39)	D1065N	probably benign	Het
Fbxo10	T	A	4: 45,058,942 (GRCm39)	D265V	possibly damaging	Het
Flrt2	A	G	12: 95,746,331 (GRCm39)	E223G	probably benign	Het
Gjc2	A	T	11: 59,068,334 (GRCm39)	D49E	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Irf2	A	T	8: 47,271,887 (GRCm39)	Y158F	probably benign	Het
Jmy	T	C	13: 93,634,949 (GRCm39)	D289G	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Limch1	T	G	5: 67,156,649 (GRCm39)	I372S	probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mboat2	G	A	12: 24,984,609 (GRCm39)	E147K	probably damaging	Het
Mctp2	T	C	7: 71,852,210 (GRCm39)	I439V	probably benign	Het
Npc2	A	G	12: 84,812,131 (GRCm39)	V37A	probably damaging	Het
Or2t29	A	T	11: 58,433,778 (GRCm39)	S188T	possibly damaging	Het
Or5b119	A	T	19: 13,456,764 (GRCm39)	M266K	possibly damaging	Het
Parp4	T	C	14: 56,825,271 (GRCm39)		probably null	Het
Pcdhga2	A	T	18: 37,803,178 (GRCm39)	N341Y	probably damaging	Het
Pde1b	G	A	15: 103,423,745 (GRCm39)		probably benign	Het
Pde1c	C	T	6: 56,128,276 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,761,441 (GRCm39)	V2098I	possibly damaging	Het
Pou2f2	G	T	7: 24,815,551 (GRCm39)	S72*	probably null	Het
Ptpru	C	T	4: 131,535,783 (GRCm39)	R398H	probably damaging	Het
Rps15	A	G	10: 80,128,624 (GRCm39)	K7E	probably benign	Het
Rtn4rl2	C	T	2: 84,702,951 (GRCm39)	G207D	probably damaging	Het
Scn2a	A	C	2: 65,511,345 (GRCm39)	L130F	probably benign	Het
Sh3tc1	G	A	5: 35,868,256 (GRCm39)	R403W	probably damaging	Het
Slc7a9	A	G	7: 35,152,858 (GRCm39)	K92R	probably benign	Het
Srpk1	A	G	17: 28,813,229 (GRCm39)	I505T	probably damaging	Het
Sult1c2	A	T	17: 54,269,580 (GRCm39)	I216K	probably benign	Het
Susd6	T	A	12: 80,897,997 (GRCm39)	M44K	probably benign	Het
Thoc5	T	A	11: 4,876,068 (GRCm39)	V607E	probably benign	Het
Tiparp	A	G	3: 65,438,767 (GRCm39)	R28G	probably benign	Het
Tln1	C	T	4: 43,540,116 (GRCm39)	V1498I	probably benign	Het
Tmprss11c	T	G	5: 86,387,276 (GRCm39)	Q214P	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Wdr11	G	A	7: 129,232,403 (GRCm39)	S937N	possibly damaging	Het
Zdhhc23	A	T	16: 43,791,927 (GRCm39)	I282K	probably damaging	Het
Zfp488	A	G	14: 33,693,052 (GRCm39)	M37T	probably benign	Het
Zmpste24	T	C	4: 120,940,556 (GRCm39)	S142G	probably benign	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
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
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'- TGTGCAGGCTTGTAACAGCC -3'
(R):5'- ACCCTTGGAGAAGCTAGCTG -3'

Sequencing Primer
(F):5'- GCTTGTAACAGCCAGGGG -3'
(R):5'- TTGGAGAAGCTAGCTGGCACC -3'

Posted On

2020-10-20