Mutagenetix > Incidental Mutation

Incidental Mutation 'R4607:Slit1'

346111

Institutional Source

Beutler Lab

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

MMRRC Submission

041818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41588696-41732104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41605232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 873 (R873L)

Ref Sequence

ENSEMBL: ENSMUSP00000128381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141]

AlphaFold

Q80TR4

Predicted Effect

probably benign
Transcript: ENSMUST00000025993
AA Change: R873L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: R873L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
FOLN	1418	1440	2.25e1	SMART
EGF	1418	1451	1.28e-3	SMART
CT	1462	1531	3.15e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166496
AA Change: R873L

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: R873L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
low complexity region	1437	1458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169141
AA Change: R873L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: R873L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
FOLN	1418	1440	2.25e1	SMART
EGF	1418	1451	1.28e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (65/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adgra3	A	C	5: 50,128,081 (GRCm39)	V800G	probably damaging	Het
Aldh1a1	A	T	19: 20,599,051 (GRCm39)	Y154F	probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Chrna9	A	G	5: 66,134,078 (GRCm39)	I310V	possibly damaging	Het
Cpeb3	A	G	19: 37,152,239 (GRCm39)	S46P	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlgap5	A	G	14: 47,650,475 (GRCm39)	I151T	possibly damaging	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
Erlin1	C	T	19: 44,051,474 (GRCm39)	V76M	probably damaging	Het
Fam161a	G	A	11: 22,970,710 (GRCm39)	S296N	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gna14	A	G	19: 16,511,075 (GRCm39)		probably null	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ipo11	A	G	13: 107,037,319 (GRCm39)	S175P	probably damaging	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Map3k2	T	C	18: 32,333,030 (GRCm39)	L68P	probably damaging	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mink1	A	G	11: 70,496,893 (GRCm39)	E417G	possibly damaging	Het
Myrf	G	T	19: 10,206,431 (GRCm39)	D29E	probably damaging	Het
Nelfcd	T	A	2: 174,264,955 (GRCm39)	D215E	probably benign	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Or8g32	T	C	9: 39,306,031 (GRCm39)	*312Q	probably null	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdh9	T	A	14: 93,253,009 (GRCm39)	N1218I	probably benign	Het
Pcdhga6	A	G	18: 37,841,671 (GRCm39)	N464D	probably damaging	Het
Pramel52-ps	G	T	5: 94,531,387 (GRCm39)	R90S	probably benign	Het
Rdx	T	A	9: 51,980,137 (GRCm39)	S243R	probably damaging	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Spata31e3	G	A	13: 50,399,542 (GRCm39)	T928I	possibly damaging	Het
Strc	T	A	2: 121,203,426 (GRCm39)	I1130F	probably benign	Het
Tlk2	T	A	11: 105,145,844 (GRCm39)	L350Q	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,511 (GRCm39)	H53Q	probably benign	Het
Trbv24	T	C	6: 41,195,335 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp512b	C	A	2: 181,230,567 (GRCm39)	R441L	probably damaging	Het

Other mutations in Slit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Slit1	APN	19	41,639,274 (GRCm39)	missense	probably damaging	1.00
IGL00515:Slit1	APN	19	41,612,940 (GRCm39)	missense	probably damaging	0.97
IGL00909:Slit1	APN	19	41,590,694 (GRCm39)	missense	possibly damaging	0.89
IGL00953:Slit1	APN	19	41,590,739 (GRCm39)	missense	probably damaging	1.00
IGL01116:Slit1	APN	19	41,594,824 (GRCm39)	missense	possibly damaging	0.93
IGL01457:Slit1	APN	19	41,599,483 (GRCm39)	missense	probably damaging	1.00
IGL01688:Slit1	APN	19	41,717,545 (GRCm39)	missense	probably damaging	1.00
IGL01720:Slit1	APN	19	41,622,653 (GRCm39)	missense	probably benign	0.01
IGL01925:Slit1	APN	19	41,596,817 (GRCm39)	missense	probably damaging	0.98
IGL02008:Slit1	APN	19	41,634,579 (GRCm39)	missense	probably damaging	0.99
IGL02312:Slit1	APN	19	41,590,119 (GRCm39)	missense	possibly damaging	0.66
IGL02398:Slit1	APN	19	41,590,676 (GRCm39)	missense	probably damaging	1.00
IGL02542:Slit1	APN	19	41,615,687 (GRCm39)	missense	probably damaging	1.00
IGL02559:Slit1	APN	19	41,709,524 (GRCm39)	missense	probably benign	0.01
IGL02609:Slit1	APN	19	41,590,743 (GRCm39)	missense	probably damaging	0.99
IGL02623:Slit1	APN	19	41,640,122 (GRCm39)	missense	probably damaging	0.98
IGL02729:Slit1	APN	19	41,591,773 (GRCm39)	missense	probably damaging	1.00
IGL03230:Slit1	APN	19	41,717,524 (GRCm39)	missense	probably damaging	1.00
IGL03387:Slit1	APN	19	41,591,881 (GRCm39)	missense	possibly damaging	0.57
PIT4576001:Slit1	UTSW	19	41,612,988 (GRCm39)	missense	possibly damaging	0.52
R0366:Slit1	UTSW	19	41,599,470 (GRCm39)	missense	probably damaging	1.00
R0432:Slit1	UTSW	19	41,731,732 (GRCm39)	missense	probably damaging	0.98
R0496:Slit1	UTSW	19	41,596,750 (GRCm39)	splice site	probably benign
R0722:Slit1	UTSW	19	41,596,874 (GRCm39)	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41,596,823 (GRCm39)	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41,596,823 (GRCm39)	missense	probably damaging	1.00
R1488:Slit1	UTSW	19	41,596,824 (GRCm39)	missense	probably damaging	1.00
R1615:Slit1	UTSW	19	41,639,110 (GRCm39)	splice site	probably benign
R1694:Slit1	UTSW	19	41,626,031 (GRCm39)	missense	possibly damaging	0.69
R1762:Slit1	UTSW	19	41,591,774 (GRCm39)	missense	probably damaging	1.00
R1842:Slit1	UTSW	19	41,709,477 (GRCm39)	critical splice donor site	probably null
R1844:Slit1	UTSW	19	41,614,012 (GRCm39)	missense	probably damaging	1.00
R1940:Slit1	UTSW	19	41,619,215 (GRCm39)	missense	probably damaging	1.00
R2087:Slit1	UTSW	19	41,625,922 (GRCm39)	missense	probably benign	0.00
R2094:Slit1	UTSW	19	41,594,819 (GRCm39)	missense	probably damaging	0.99
R2095:Slit1	UTSW	19	41,594,819 (GRCm39)	missense	probably damaging	0.99
R2104:Slit1	UTSW	19	41,590,686 (GRCm39)	missense	possibly damaging	0.69
R2305:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2972:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2973:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2974:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R3159:Slit1	UTSW	19	41,592,812 (GRCm39)	missense	probably benign
R3752:Slit1	UTSW	19	41,635,406 (GRCm39)	critical splice donor site	probably null
R4095:Slit1	UTSW	19	41,596,925 (GRCm39)	intron	probably benign
R4282:Slit1	UTSW	19	41,602,856 (GRCm39)	missense	probably benign
R4417:Slit1	UTSW	19	41,602,908 (GRCm39)	missense	probably damaging	1.00
R4729:Slit1	UTSW	19	41,635,459 (GRCm39)	missense	probably damaging	1.00
R4756:Slit1	UTSW	19	41,637,452 (GRCm39)	missense	probably damaging	1.00
R4764:Slit1	UTSW	19	41,709,483 (GRCm39)	nonsense	probably null
R4849:Slit1	UTSW	19	41,637,983 (GRCm39)	missense	probably benign	0.17
R4874:Slit1	UTSW	19	41,717,493 (GRCm39)	critical splice donor site	probably null
R5581:Slit1	UTSW	19	41,605,102 (GRCm39)	critical splice donor site	probably null
R5699:Slit1	UTSW	19	41,613,959 (GRCm39)	critical splice donor site	probably null
R5888:Slit1	UTSW	19	41,731,735 (GRCm39)	missense	probably damaging	1.00
R5906:Slit1	UTSW	19	41,594,813 (GRCm39)	missense	probably damaging	1.00
R6176:Slit1	UTSW	19	41,626,034 (GRCm39)	missense	probably damaging	1.00
R6277:Slit1	UTSW	19	41,588,948 (GRCm39)	missense	possibly damaging	0.81
R6702:Slit1	UTSW	19	41,603,309 (GRCm39)	missense	possibly damaging	0.95
R6860:Slit1	UTSW	19	41,605,154 (GRCm39)	missense	probably benign	0.10
R7015:Slit1	UTSW	19	41,618,325 (GRCm39)	nonsense	probably null
R7172:Slit1	UTSW	19	41,623,105 (GRCm39)	missense	probably damaging	1.00
R7512:Slit1	UTSW	19	41,589,074 (GRCm39)	missense	probably damaging	1.00
R7568:Slit1	UTSW	19	41,590,074 (GRCm39)	missense	probably damaging	1.00
R7614:Slit1	UTSW	19	41,622,639 (GRCm39)	missense	probably damaging	1.00
R7650:Slit1	UTSW	19	41,618,363 (GRCm39)	missense	probably damaging	1.00
R7687:Slit1	UTSW	19	41,639,128 (GRCm39)	missense	probably benign	0.03
R7732:Slit1	UTSW	19	41,592,847 (GRCm39)	missense	probably benign	0.01
R7947:Slit1	UTSW	19	41,599,248 (GRCm39)	missense	probably benign
R7947:Slit1	UTSW	19	41,599,247 (GRCm39)	missense	probably damaging	1.00
R8171:Slit1	UTSW	19	41,715,512 (GRCm39)	missense	probably damaging	0.97
R8217:Slit1	UTSW	19	41,612,959 (GRCm39)	missense	possibly damaging	0.60
R8355:Slit1	UTSW	19	41,634,473 (GRCm39)	missense	probably damaging	1.00
R9025:Slit1	UTSW	19	41,612,968 (GRCm39)	missense	probably benign	0.01
R9124:Slit1	UTSW	19	41,594,951 (GRCm39)	missense	probably benign	0.02
R9288:Slit1	UTSW	19	41,613,144 (GRCm39)	intron	probably benign
R9343:Slit1	UTSW	19	41,615,737 (GRCm39)	missense	probably damaging	1.00
R9435:Slit1	UTSW	19	41,591,764 (GRCm39)	critical splice donor site	probably null
R9563:Slit1	UTSW	19	41,596,874 (GRCm39)	missense	probably damaging	1.00
R9564:Slit1	UTSW	19	41,591,861 (GRCm39)	missense	probably benign	0.16
R9595:Slit1	UTSW	19	41,637,851 (GRCm39)	missense	probably damaging	1.00
R9667:Slit1	UTSW	19	41,731,832 (GRCm39)	nonsense	probably null
X0023:Slit1	UTSW	19	41,590,079 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTTTCTGGAAGACCCCAC -3'
(R):5'- AAGCTGGTTACTCAGTCTCCCC -3'

Sequencing Primer
(F):5'- TAGGCAAATCCTGGGGTCC -3'
(R):5'- GGTTACTCAGTCTCCCCAAGTCTG -3'

Posted On

2015-09-25