Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Rhot1'

378316

Institutional Source

Beutler Lab

Gene Symbol

Rhot1

Ensembl Gene

ENSMUSG00000017686

Gene Name

ras homolog family member T1

Synonyms

2210403N23Rik, FLJ11040, Arht1, Miro1, C430039G08Rik

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4917 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80099845-80158733 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 80100027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017831] [ENSMUST00000055056] [ENSMUST00000077451] [ENSMUST00000092857]

AlphaFold

Q8BG51

Predicted Effect

probably benign
Transcript: ENSMUST00000017831

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686

Domain	Start	End	E-Value	Type
Pfam:Arf	7	177	5.5e-6	PFAM
Pfam:Miro	19	134	2.5e-18	PFAM
Pfam:Ras	19	181	1.4e-20	PFAM
EFh	201	229	6.75e0	SMART
Pfam:EF_assoc_2	231	319	5.3e-36	PFAM
EFh	321	349	1.67e0	SMART
Pfam:EF_assoc_1	353	427	1.8e-33	PFAM
Pfam:Miro	433	543	6.6e-16	PFAM
Pfam:Ras	433	566	1.7e-6	PFAM
transmembrane domain	638	660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055056

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686

Domain	Start	End	E-Value	Type
Pfam:Arf	7	177	5.6e-6	PFAM
Pfam:Miro	19	134	2.5e-18	PFAM
Pfam:Ras	19	181	1.4e-20	PFAM
EFh	201	229	6.75e0	SMART
Pfam:EF_assoc_2	231	319	5.4e-36	PFAM
EFh	321	349	1.67e0	SMART
Pfam:EF_assoc_1	353	427	1.8e-33	PFAM
Pfam:Miro	433	543	6.7e-16	PFAM
Pfam:Ras	433	577	1.6e-6	PFAM
transmembrane domain	647	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077451

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686

Domain	Start	End	E-Value	Type
Pfam:Roc	19	135	9.4e-11	PFAM
Pfam:Ras	19	181	9.1e-21	PFAM
EFh	201	229	6.75e0	SMART
Pfam:EF_assoc_2	232	318	8.3e-36	PFAM
EFh	321	349	1.67e0	SMART
Pfam:EF_assoc_1	354	426	7e-32	PFAM
Pfam:Ras	433	566	1.5e-6	PFAM
transmembrane domain	679	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092857

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686

Domain	Start	End	E-Value	Type
small_GTPase	15	182	5.1e-8	SMART
EFh	201	229	3.3e-2	SMART
Pfam:EF_assoc_2	231	319	2.9e-33	PFAM
EFh	321	349	8.1e-3	SMART
Pfam:EF_assoc_1	353	427	1e-30	PFAM
Pfam:Miro	433	543	8e-15	PFAM
Pfam:Ras	433	566	2.5e-5	PFAM
transmembrane domain	606	628	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154362

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele die neonatally exhibiting cyanosis, respiratory failure, loss of brainstem cranial motor neurons, decreased cervical motor neuron number and phrenic nerve branching, and alterations in retrograde mitochondrial transport and run length in cortical axons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,658,996 (GRCm39)	V2783I	probably benign	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,029,302 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cds2	A	G	2: 132,140,398 (GRCm39)	T182A	probably damaging	Het
Cfap157	C	T	2: 32,669,965 (GRCm39)	R206H	probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Crybg3	A	G	16: 59,350,782 (GRCm39)	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,354,527 (GRCm39)	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,773,160 (GRCm39)	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Dmtn	G	T	14: 70,843,159 (GRCm39)	P283Q	probably damaging	Het
Dspp	C	A	5: 104,325,789 (GRCm39)	D717E	unknown	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erlec1	A	G	11: 30,884,710 (GRCm39)	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm5958	C	A	14: 100,073,189 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
H2bc13	A	T	13: 21,900,189 (GRCm39)	V42E	probably damaging	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,927,580 (GRCm39)	I57V	probably benign	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,526,653 (GRCm39)	C179*	probably null	Het
Lrig1	A	G	6: 94,586,700 (GRCm39)	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,244,574 (GRCm39)	I11V	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Pcdhb3	A	T	18: 37,435,452 (GRCm39)	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,897,191 (GRCm39)	N754Y	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330 (GRCm39)		probably benign	Het
Poldip3	A	T	15: 83,016,776 (GRCm39)		probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Psmc3	A	G	2: 90,896,317 (GRCm39)		probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rtraf	T	C	14: 19,873,784 (GRCm39)	K5R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Ryr3	T	C	2: 112,661,530 (GRCm39)	H1820R	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Selp	A	C	1: 163,972,475 (GRCm39)	T705P	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,231,203 (GRCm39)		probably null	Het
Slc2a9	C	A	5: 38,574,603 (GRCm39)	L224F	probably benign	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Syne1	C	T	10: 5,007,909 (GRCm39)	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 57,985,808 (GRCm39)	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,945,264 (GRCm39)	M781K	probably damaging	Het
Vps36	T	G	8: 22,708,280 (GRCm39)	M348R	possibly damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het

Other mutations in Rhot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Rhot1	APN	11	80,116,928 (GRCm39)	missense	probably benign	0.27
IGL01335:Rhot1	APN	11	80,141,055 (GRCm39)	missense	probably damaging	1.00
IGL01631:Rhot1	APN	11	80,156,600 (GRCm39)	missense	probably damaging	1.00
IGL03009:Rhot1	APN	11	80,111,080 (GRCm39)	splice site	probably null
IGL03106:Rhot1	APN	11	80,133,407 (GRCm39)	nonsense	probably null
R0554:Rhot1	UTSW	11	80,134,264 (GRCm39)	nonsense	probably null
R0720:Rhot1	UTSW	11	80,114,769 (GRCm39)	missense	probably damaging	1.00
R1319:Rhot1	UTSW	11	80,136,847 (GRCm39)	missense	probably damaging	0.98
R3825:Rhot1	UTSW	11	80,116,907 (GRCm39)	missense	probably damaging	0.98
R4713:Rhot1	UTSW	11	80,116,428 (GRCm39)	missense	probably benign	0.00
R4971:Rhot1	UTSW	11	80,124,300 (GRCm39)	missense	probably damaging	1.00
R5159:Rhot1	UTSW	11	80,111,098 (GRCm39)	missense	probably damaging	1.00
R5177:Rhot1	UTSW	11	80,137,592 (GRCm39)	missense	possibly damaging	0.90
R5231:Rhot1	UTSW	11	80,118,160 (GRCm39)	critical splice donor site	probably null
R5659:Rhot1	UTSW	11	80,141,181 (GRCm39)	splice site	probably null
R5941:Rhot1	UTSW	11	80,141,996 (GRCm39)	intron	probably benign
R6216:Rhot1	UTSW	11	80,141,885 (GRCm39)	missense	probably benign	0.00
R6920:Rhot1	UTSW	11	80,132,921 (GRCm39)	missense	probably benign	0.36
R6984:Rhot1	UTSW	11	80,124,310 (GRCm39)	nonsense	probably null
R7199:Rhot1	UTSW	11	80,137,560 (GRCm39)	missense	probably damaging	1.00
R7383:Rhot1	UTSW	11	80,114,760 (GRCm39)	missense	probably damaging	1.00
R7453:Rhot1	UTSW	11	80,139,366 (GRCm39)	critical splice donor site	probably null
R7922:Rhot1	UTSW	11	80,156,629 (GRCm39)	missense	probably benign	0.01
R7996:Rhot1	UTSW	11	80,148,363 (GRCm39)	missense	probably damaging	1.00
R8116:Rhot1	UTSW	11	80,141,879 (GRCm39)	missense	probably benign	0.00
R8298:Rhot1	UTSW	11	80,137,502 (GRCm39)	missense	probably benign	0.01
R8322:Rhot1	UTSW	11	80,148,386 (GRCm39)	missense	possibly damaging	0.95
R8371:Rhot1	UTSW	11	80,134,292 (GRCm39)	missense	probably damaging	1.00
R8408:Rhot1	UTSW	11	80,114,786 (GRCm39)	missense	probably damaging	1.00
R9155:Rhot1	UTSW	11	80,148,380 (GRCm39)	missense	probably null	0.59
R9338:Rhot1	UTSW	11	80,145,568 (GRCm39)	missense	probably benign	0.08
Z1176:Rhot1	UTSW	11	80,133,447 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTCCGAAAGCTCTTGTCC -3'
(R):5'- ATGAGTGACTGACAGGCGAC -3'

Sequencing Primer
(F):5'- GAAAGCTCTTGTCCCTCGC -3'
(R):5'- TTTCGCAGCGAGAGGACC -3'

Posted On

2016-04-15