Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Slit1'

507757

Institutional Source

Beutler Lab

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

MMRRC Submission

044447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6277 (G1)

Quality Score

127.008

Status

Validated

Chromosome

Chromosomal Location

41588696-41732104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41588948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1513 (T1513I)

Ref Sequence

ENSEMBL: ENSMUSP00000025993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000099454] [ENSMUST00000166496] [ENSMUST00000169141]

AlphaFold

Q80TR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025993
AA Change: T1513I

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: T1513I

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: ENSMUST00000099454

Predicted Effect

probably benign
Transcript: ENSMUST00000166496

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020

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

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169416

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,651 (GRCm39)	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,088,668 (GRCm39)	Y179*	probably null	Het
Abca7	G	C	10: 79,841,992 (GRCm39)	V1042L	probably benign	Het
Adck5	C	A	15: 76,477,463 (GRCm39)	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,109,896 (GRCm39)	T823A	probably benign	Het
Adra1d	G	T	2: 131,403,083 (GRCm39)	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,619,337 (GRCm39)	M749K	probably damaging	Het
Arid4a	A	G	12: 71,086,665 (GRCm39)	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,275,893 (GRCm39)	T317A	probably benign	Het
Bicc1	T	C	10: 70,863,731 (GRCm39)	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,620,808 (GRCm39)	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,857,272 (GRCm39)	Q26L	probably damaging	Het
Celf3	T	C	3: 94,392,672 (GRCm39)	C124R	probably damaging	Het
Cfap44	A	G	16: 44,257,669 (GRCm39)	E1068G	probably benign	Het
Crybg1	T	A	10: 43,873,255 (GRCm39)	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,272,119 (GRCm39)	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,285,866 (GRCm39)	P675L	probably damaging	Het
Dnah12	A	T	14: 26,492,439 (GRCm39)	H1193L	probably damaging	Het
Efcab3	G	C	11: 104,901,148 (GRCm39)	E4422D	possibly damaging	Het
Ern2	A	G	7: 121,785,330 (GRCm39)	F16L	probably benign	Het
Fam163b	G	T	2: 27,002,763 (GRCm39)	T78N	probably benign	Het
Fbxw21	A	T	9: 108,974,623 (GRCm39)	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,432,299 (GRCm39)	N344S	probably benign	Het
Git2	A	G	5: 114,871,308 (GRCm39)	I202T	probably damaging	Het
Gm11595	G	T	11: 99,663,510 (GRCm39)	P57T	unknown	Het
Gm12258	G	A	11: 58,745,113 (GRCm39)	V15M	probably damaging	Het
Gm15056	C	T	8: 21,390,914 (GRCm39)	G40S	probably damaging	Het
Gnal	C	A	18: 67,346,143 (GRCm39)	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,371,583 (GRCm39)		probably null	Het
Ighv7-2	A	G	12: 113,876,087 (GRCm39)	I6T	probably benign	Het
Irf9	A	G	14: 55,845,109 (GRCm39)	D323G	probably benign	Het
Klhl23	G	T	2: 69,664,096 (GRCm39)	D482Y	probably damaging	Het
Lama4	A	G	10: 38,982,006 (GRCm39)	N1745S	probably damaging	Het
Lct	T	A	1: 128,231,974 (GRCm39)	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,180,116 (GRCm39)	V39A	probably benign	Het
Mllt6	G	A	11: 97,564,774 (GRCm39)	A527T	probably damaging	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Nlrp5	A	G	7: 23,120,880 (GRCm39)	D698G	probably damaging	Het
Or13p10	T	A	4: 118,523,520 (GRCm39)	S269T	probably benign	Het
Pacsin1	T	A	17: 27,924,969 (GRCm39)		probably null	Het
Padi3	A	T	4: 140,518,472 (GRCm39)		probably null	Het
Pcdha8	T	C	18: 37,127,411 (GRCm39)	I631T	probably damaging	Het
Pkn3	G	A	2: 29,972,957 (GRCm39)	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 146,907,422 (GRCm39)	D228E	probably benign	Het
Prag1	G	T	8: 36,613,745 (GRCm39)	R1099L	probably damaging	Het
Pramel31	A	G	4: 144,090,223 (GRCm39)	E421G	probably damaging	Het
Prr36	A	G	8: 4,264,746 (GRCm39)		probably benign	Het
Prrc2c	A	G	1: 162,541,883 (GRCm39)	S369P	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Slc9c1	G	A	16: 45,427,204 (GRCm39)		probably benign	Het
Smcr8	C	T	11: 60,669,635 (GRCm39)	T261M	probably benign	Het
Spata17	G	A	1: 186,926,151 (GRCm39)	R60*	probably null	Het
Speer4f1	A	G	5: 17,681,241 (GRCm39)	R40G	probably damaging	Het
Spns3	A	G	11: 72,420,466 (GRCm39)	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,716,344 (GRCm39)	I595V	probably benign	Het
Srms	G	A	2: 180,848,038 (GRCm39)	A489V	possibly damaging	Het
St3gal4	T	C	9: 34,964,558 (GRCm39)	N169S	probably damaging	Het
Taar5	T	A	10: 23,847,169 (GRCm39)	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,071,525 (GRCm39)	P333L	probably benign	Het
Tet3	G	T	6: 83,345,066 (GRCm39)	Y1790*	probably null	Het
Ticrr	T	A	7: 79,344,444 (GRCm39)	H1436Q	probably benign	Het
Top6bl	G	T	19: 4,677,250 (GRCm39)	S466*	probably null	Het
Ubl7	C	T	9: 57,830,555 (GRCm39)	L334F	possibly damaging	Het
Unc13a	A	G	8: 72,119,283 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,606,451 (GRCm39)	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,509,954 (GRCm39)	L842P	possibly damaging	Het
Vps35	G	T	8: 85,987,857 (GRCm39)	Q765K	possibly damaging	Het
Zfp87	G	T	13: 74,520,643 (GRCm39)	S145*	probably null	Het
Zgrf1	C	T	3: 127,392,461 (GRCm39)	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,718,983 (GRCm39)	S334R	probably benign	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
R4607:Slit1	UTSW	19	41,605,232 (GRCm39)	missense	probably benign	0.10
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
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'- TTTGTGGCCTGACCTCACAC -3'
(R):5'- TTGGTGTTTGTCCCATCCAG -3'

Sequencing Primer
(F):5'- TAAGCGCCTATCTGTGCAAG -3'
(R):5'- GTTTGTCCCATCCAGAGTCCGAG -3'

Posted On

2018-03-15