Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Robo1'

406290

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Robo1

Ensembl Gene

ENSMUSG00000022883

Gene Name

roundabout guidance receptor 1

Synonyms

DUTT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

72105194-72842983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72803750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1099 (Y1099N)

Ref Sequence

ENSEMBL: ENSMUSP00000023600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023600]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023600
AA Change: Y1099N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: Y1099N

Domain	Start	End	E-Value	Type
IGc2	41	115	3.15e-10	SMART
IGc2	143	208	2.52e-9	SMART
IGc2	235	298	3.85e-14	SMART
IGv	328	391	3.71e-7	SMART
IGc2	428	493	2.46e-12	SMART
FN3	522	604	3.17e-13	SMART
FN3	634	721	1.66e0	SMART
FN3	736	822	4.28e-10	SMART
low complexity region	1108	1125	N/A	INTRINSIC
low complexity region	1148	1157	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC
low complexity region	1249	1269	N/A	INTRINSIC
low complexity region	1282	1298	N/A	INTRINSIC
low complexity region	1345	1357	N/A	INTRINSIC
low complexity region	1362	1380	N/A	INTRINSIC
low complexity region	1442	1449	N/A	INTRINSIC
low complexity region	1563	1576	N/A	INTRINSIC
low complexity region	1602	1611	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000232205
AA Change: Y1108N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232432

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,545,479 (GRCm39)	T242M	probably damaging	Het
Abcg3	A	T	5: 105,116,129 (GRCm39)	I235N	probably damaging	Het
Agbl3	T	C	6: 34,776,757 (GRCm39)	L416S	probably damaging	Het
Alcam	T	C	16: 52,116,079 (GRCm39)	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,557,528 (GRCm39)	I341F	probably damaging	Het
Amn	T	C	12: 111,237,575 (GRCm39)	V7A	probably benign	Het
Apc	C	T	18: 34,401,436 (GRCm39)		probably benign	Het
Arg2	T	C	12: 79,197,566 (GRCm39)	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,191,800 (GRCm39)	M22K	probably benign	Het
Cacna1s	T	G	1: 136,020,355 (GRCm39)	N797K	possibly damaging	Het
Chd8	T	A	14: 52,439,158 (GRCm39)		probably null	Het
Clstn2	G	A	9: 97,414,760 (GRCm39)	T378M	probably damaging	Het
Elf2	A	G	3: 51,165,110 (GRCm39)	V298A	probably damaging	Het
Fbn1	C	T	2: 125,188,250 (GRCm39)	D1530N	probably null	Het
Fcrl2	A	T	3: 87,164,704 (GRCm39)	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,810,619 (GRCm39)	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,542,425 (GRCm39)	N408K	probably damaging	Het
Foxn2	A	T	17: 88,770,543 (GRCm39)	N130I	probably damaging	Het
Fscb	T	A	12: 64,518,299 (GRCm39)	I1056F	unknown	Het
Gimap5	A	C	6: 48,730,311 (GRCm39)	T294P	possibly damaging	Het
Gm20489	T	C	X: 100,307,320 (GRCm39)	Q11R	probably damaging	Het
Gpr3	T	C	4: 132,938,220 (GRCm39)	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,471,451 (GRCm39)	H30L	probably damaging	Het
Ints6l	C	A	X: 55,552,296 (GRCm39)	S845Y	probably benign	Het
Iqcf3	A	T	9: 106,430,844 (GRCm39)	C101*	probably null	Het
Krt82	G	A	15: 101,459,020 (GRCm39)	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,812,103 (GRCm39)	H716L	possibly damaging	Het
Lefty1	C	A	1: 180,762,842 (GRCm39)	H56Q	probably benign	Het
Lrp1	T	C	10: 127,390,885 (GRCm39)	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,705,341 (GRCm39)	S177*	probably null	Het
Naa15	A	G	3: 51,368,628 (GRCm39)	K576R	possibly damaging	Het
Naip2	A	G	13: 100,298,186 (GRCm39)	S617P	probably damaging	Het
Olfm1	T	G	2: 28,119,701 (GRCm39)	N445K	probably damaging	Het
Or4ac1-ps1	C	T	2: 88,370,579 (GRCm39)		silent	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Ostm1	T	A	10: 42,559,158 (GRCm39)	N139K	probably damaging	Het
Ovol1	A	G	19: 5,601,177 (GRCm39)	Y205H	probably damaging	Het
Pappa	C	T	4: 65,123,172 (GRCm39)	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,636,637 (GRCm39)	K229E	probably benign	Het
Ppm1b	T	A	17: 85,301,252 (GRCm39)	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,600,228 (GRCm39)	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,738,743 (GRCm39)	Y2832*	probably null	Het
Sf3b1	T	C	1: 55,046,866 (GRCm39)	H226R	probably benign	Het
Slc26a4	C	T	12: 31,579,553 (GRCm39)	V570I	probably damaging	Het
Slc27a1	C	A	8: 72,036,847 (GRCm39)	A361D	probably damaging	Het
Srp68	T	C	11: 116,137,051 (GRCm39)	N549D	probably benign	Het
Terb1	G	T	8: 105,221,600 (GRCm39)	S202*	probably null	Het
Tmc1	T	A	19: 20,878,208 (GRCm39)	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,454,235 (GRCm39)	V190A	probably damaging	Het
Ttll6	G	A	11: 96,047,528 (GRCm39)	C709Y	probably benign	Het
Uba1	A	G	X: 20,544,959 (GRCm39)	H712R	probably benign	Het
Unc80	A	C	1: 66,564,817 (GRCm39)	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,369,292 (GRCm39)	P94S	possibly damaging	Het
Yes1	C	T	5: 32,818,112 (GRCm39)	A383V	probably damaging	Het

Other mutations in Robo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01766:Robo1	APN	16	72,801,553 (GRCm39)	missense	probably benign	0.00
IGL01937:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL01945:Robo1	APN	16	72,759,114 (GRCm39)	missense	probably damaging	1.00
IGL02151:Robo1	APN	16	72,786,504 (GRCm39)	missense	probably benign	0.00
IGL02232:Robo1	APN	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
IGL02282:Robo1	APN	16	72,539,026 (GRCm39)	missense	probably damaging	1.00
IGL02590:Robo1	APN	16	72,840,020 (GRCm39)	missense	probably benign	0.06
IGL02874:Robo1	APN	16	72,809,806 (GRCm39)	missense	probably damaging	0.96
IGL03233:Robo1	APN	16	72,767,081 (GRCm39)	missense	probably damaging	0.99
PIT4378001:Robo1	UTSW	16	72,801,423 (GRCm39)	missense	probably damaging	1.00
R0079:Robo1	UTSW	16	72,730,230 (GRCm39)	splice site	probably benign
R0254:Robo1	UTSW	16	72,461,058 (GRCm39)	missense	probably benign	0.00
R0366:Robo1	UTSW	16	72,539,133 (GRCm39)	missense	possibly damaging	0.52
R0410:Robo1	UTSW	16	72,768,872 (GRCm39)	missense	possibly damaging	0.59
R0511:Robo1	UTSW	16	72,810,013 (GRCm39)	critical splice donor site	probably null
R0563:Robo1	UTSW	16	72,769,174 (GRCm39)	missense	probably benign	0.01
R0637:Robo1	UTSW	16	72,798,839 (GRCm39)	missense	probably benign	0.29
R1239:Robo1	UTSW	16	72,821,430 (GRCm39)	splice site	probably null
R1773:Robo1	UTSW	16	72,801,399 (GRCm39)	missense	probably benign	0.00
R1777:Robo1	UTSW	16	72,801,555 (GRCm39)	missense	probably benign
R1901:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1902:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1903:Robo1	UTSW	16	72,757,092 (GRCm39)	missense	probably null	1.00
R1996:Robo1	UTSW	16	72,767,067 (GRCm39)	missense	probably benign	0.40
R2040:Robo1	UTSW	16	72,730,630 (GRCm39)	missense	probably damaging	1.00
R2266:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2269:Robo1	UTSW	16	72,775,660 (GRCm39)	missense	probably benign
R2433:Robo1	UTSW	16	72,767,127 (GRCm39)	missense	probably benign	0.01
R3084:Robo1	UTSW	16	72,801,625 (GRCm39)	missense	probably benign	0.02
R3085:Robo1	UTSW	16	72,798,898 (GRCm39)	missense	possibly damaging	0.81
R3150:Robo1	UTSW	16	72,767,157 (GRCm39)	missense	possibly damaging	0.57
R3418:Robo1	UTSW	16	72,832,805 (GRCm39)	missense	probably benign	0.00
R3610:Robo1	UTSW	16	72,780,658 (GRCm39)	missense	probably benign	0.00
R3940:Robo1	UTSW	16	72,806,631 (GRCm39)	missense	probably benign
R3953:Robo1	UTSW	16	72,821,226 (GRCm39)	missense	probably damaging	1.00
R4692:Robo1	UTSW	16	72,757,090 (GRCm39)	missense	probably damaging	1.00
R4726:Robo1	UTSW	16	72,768,931 (GRCm39)	missense	probably damaging	1.00
R4814:Robo1	UTSW	16	72,768,923 (GRCm39)	missense	probably benign	0.11
R4884:Robo1	UTSW	16	72,701,639 (GRCm39)	missense	probably damaging	1.00
R4992:Robo1	UTSW	16	72,776,756 (GRCm39)	missense	probably damaging	0.98
R5150:Robo1	UTSW	16	72,769,192 (GRCm39)	missense	possibly damaging	0.79
R5183:Robo1	UTSW	16	72,539,038 (GRCm39)	missense	probably benign	0.03
R5360:Robo1	UTSW	16	72,732,665 (GRCm39)	missense	probably damaging	0.96
R5629:Robo1	UTSW	16	72,780,598 (GRCm39)	missense	probably benign	0.33
R5804:Robo1	UTSW	16	72,840,077 (GRCm39)	critical splice donor site	probably null
R6107:Robo1	UTSW	16	72,780,717 (GRCm39)	missense	probably benign	0.00
R6127:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6128:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6129:Robo1	UTSW	16	72,809,956 (GRCm39)	missense	probably benign
R6191:Robo1	UTSW	16	72,730,696 (GRCm39)	missense	probably benign	0.00
R6357:Robo1	UTSW	16	72,767,190 (GRCm39)	missense	probably benign	0.00
R6408:Robo1	UTSW	16	72,768,934 (GRCm39)	missense	probably benign	0.00
R6516:Robo1	UTSW	16	72,821,241 (GRCm39)	missense	probably benign	0.14
R6600:Robo1	UTSW	16	72,786,543 (GRCm39)	missense	probably damaging	1.00
R6802:Robo1	UTSW	16	72,730,201 (GRCm39)	missense	probably benign	0.17
R7105:Robo1	UTSW	16	72,539,049 (GRCm39)	missense	probably damaging	1.00
R7189:Robo1	UTSW	16	72,757,039 (GRCm39)	nonsense	probably null
R7290:Robo1	UTSW	16	72,801,408 (GRCm39)	missense	probably benign	0.03
R7296:Robo1	UTSW	16	72,786,519 (GRCm39)	nonsense	probably null
R7576:Robo1	UTSW	16	72,767,069 (GRCm39)	missense	probably damaging	0.99
R7605:Robo1	UTSW	16	72,821,189 (GRCm39)	missense	probably benign	0.14
R7607:Robo1	UTSW	16	72,360,626 (GRCm39)	missense
R7634:Robo1	UTSW	16	72,839,866 (GRCm39)	splice site	probably null
R7636:Robo1	UTSW	16	72,360,615 (GRCm39)	missense
R7857:Robo1	UTSW	16	72,767,099 (GRCm39)	missense	probably damaging	1.00
R7966:Robo1	UTSW	16	72,780,760 (GRCm39)	missense	possibly damaging	0.62
R7997:Robo1	UTSW	16	72,701,581 (GRCm39)	missense	probably damaging	1.00
R8101:Robo1	UTSW	16	72,775,469 (GRCm39)	missense	probably benign	0.03
R8191:Robo1	UTSW	16	72,730,142 (GRCm39)	missense	probably damaging	1.00
R8218:Robo1	UTSW	16	72,786,678 (GRCm39)	missense	possibly damaging	0.91
R8228:Robo1	UTSW	16	72,809,768 (GRCm39)	missense	probably benign	0.30
R8292:Robo1	UTSW	16	72,769,420 (GRCm39)	missense	possibly damaging	0.61
R8298:Robo1	UTSW	16	72,769,020 (GRCm39)	intron	probably benign
R8332:Robo1	UTSW	16	72,775,466 (GRCm39)	missense	probably damaging	1.00
R8402:Robo1	UTSW	16	72,821,385 (GRCm39)	missense	probably benign	0.16
R8492:Robo1	UTSW	16	72,809,911 (GRCm39)	missense	probably benign	0.06
R8730:Robo1	UTSW	16	72,786,495 (GRCm39)	missense	probably benign	0.08
R8774:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Robo1	UTSW	16	72,832,719 (GRCm39)	missense	probably benign	0.00
R8776:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8776-TAIL:Robo1	UTSW	16	72,821,141 (GRCm39)	nonsense	probably null
R8905:Robo1	UTSW	16	72,539,173 (GRCm39)	missense	probably damaging	1.00
R8913:Robo1	UTSW	16	72,701,622 (GRCm39)	missense	probably damaging	1.00
R9003:Robo1	UTSW	16	72,539,002 (GRCm39)	splice site	probably benign
R9246:Robo1	UTSW	16	72,769,178 (GRCm39)	missense	probably benign
R9451:Robo1	UTSW	16	72,803,718 (GRCm39)	missense	probably benign	0.10
R9509:Robo1	UTSW	16	72,759,167 (GRCm39)	missense	probably damaging	0.96
R9652:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9653:Robo1	UTSW	16	72,821,330 (GRCm39)	missense	possibly damaging	0.95
R9749:Robo1	UTSW	16	72,105,257 (GRCm39)	start gained	probably benign
Z1176:Robo1	UTSW	16	72,774,688 (GRCm39)	missense	probably benign	0.16

Posted On

2016-08-02