Mutagenetix > Incidental Mutation

Incidental Mutation 'R6984:Rhot1'

542852

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

045091-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6984 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80099845-80158733 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80124310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 157 (C157*)

Ref Sequence

ENSEMBL: ENSMUSP00000090533 (fasta)

Gene Model

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

AlphaFold

Q8BG51

Predicted Effect

probably null
Transcript: ENSMUST00000017831
AA Change: C157*

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: C157*

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 null
Transcript: ENSMUST00000055056
AA Change: C157*

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: C157*

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 null
Transcript: ENSMUST00000077451
AA Change: C157*

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: C157*

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 null
Transcript: ENSMUST00000092857
AA Change: C157*

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: C157*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.4%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,937 (GRCm39)	V676A	probably benign	Het
Abcb5	A	G	12: 118,891,012 (GRCm39)	M495T	possibly damaging	Het
Aktip	A	T	8: 91,853,346 (GRCm39)	F124I	probably damaging	Het
Alpk2	C	A	18: 65,438,749 (GRCm39)	Q1348H	possibly damaging	Het
Apol11b	T	C	15: 77,519,546 (GRCm39)	D178G	probably benign	Het
Asb15	A	T	6: 24,566,336 (GRCm39)	I430F	probably benign	Het
Chd2	A	C	7: 73,134,159 (GRCm39)	Y729*	probably null	Het
Cpb2	T	C	14: 75,502,898 (GRCm39)	V159A	possibly damaging	Het
Csf2rb	A	G	15: 78,229,719 (GRCm39)	S429G	probably damaging	Het
Ctsw	C	T	19: 5,516,646 (GRCm39)	R133H	probably damaging	Het
Dhx30	A	G	9: 109,920,485 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,958,712 (GRCm39)	G2185R	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enthd1	A	T	15: 80,444,309 (GRCm39)	I82N	probably damaging	Het
Epx	T	A	11: 87,759,424 (GRCm39)	D555V	probably damaging	Het
Fhdc1	T	G	3: 84,351,823 (GRCm39)	D1134A	possibly damaging	Het
Fip1l1	T	A	5: 74,702,734 (GRCm39)	V82D	probably damaging	Het
Fn1	A	T	1: 71,665,238 (GRCm39)	F960I	probably damaging	Het
Gsdmc2	A	T	15: 63,696,898 (GRCm39)	Y424*	probably null	Het
Hsd3b7	T	A	7: 127,400,717 (GRCm39)	I57N	probably damaging	Het
Ighv10-1	A	T	12: 114,442,702 (GRCm39)	D94E	possibly damaging	Het
Ighv3-3	A	G	12: 114,160,350 (GRCm39)	V20A	possibly damaging	Het
Kcnh3	G	T	15: 99,126,433 (GRCm39)	C220F	probably benign	Het
Kctd16	G	A	18: 40,390,101 (GRCm39)		probably benign	Het
L3mbtl3	T	C	10: 26,158,753 (GRCm39)	K632E	unknown	Het
Lama1	G	A	17: 68,086,107 (GRCm39)	V1449M		Het
Lgr6	A	G	1: 134,915,740 (GRCm39)	I336T	possibly damaging	Het
Lrp1b	A	C	2: 40,712,640 (GRCm39)	D3117E	probably damaging	Het
Lrrc4b	A	T	7: 44,110,722 (GRCm39)	E198V	possibly damaging	Het
Map2	A	T	1: 66,454,395 (GRCm39)	D1095V	possibly damaging	Het
Mapk8ip1	A	T	2: 92,217,072 (GRCm39)	S417T	probably damaging	Het
Med24	A	G	11: 98,609,368 (GRCm39)	V94A	possibly damaging	Het
Megf11	A	G	9: 64,593,734 (GRCm39)	I637V	probably benign	Het
Mpp7	C	T	18: 7,441,623 (GRCm39)	G182D	probably damaging	Het
Myh15	G	A	16: 48,930,775 (GRCm39)	G583D	probably damaging	Het
Naa15	A	G	3: 51,380,021 (GRCm39)	T750A	probably benign	Het
Or10d5b	C	T	9: 39,886,030 (GRCm39)	V30I	unknown	Het
Or10v5	T	A	19: 11,805,668 (GRCm39)	T241S	probably damaging	Het
Or1e30	G	A	11: 73,678,603 (GRCm39)	V280M	possibly damaging	Het
Pgm1	A	T	4: 99,786,851 (GRCm39)	Q30L	probably benign	Het
Pi4kb	C	T	3: 94,904,245 (GRCm39)	R238C	probably damaging	Het
Plec	T	C	15: 76,059,527 (GRCm39)	E3497G	probably damaging	Het
Plpp4	C	T	7: 128,992,616 (GRCm39)	A218V	possibly damaging	Het
Plxnc1	G	A	10: 94,667,392 (GRCm39)	A1094V	probably damaging	Het
Pom121l2	A	T	13: 22,166,191 (GRCm39)	D154V	probably benign	Het
Prrt4	G	T	6: 29,171,429 (GRCm39)	P341Q	probably benign	Het
Psd3	A	G	8: 68,270,697 (GRCm39)	V21A	possibly damaging	Het
Rnase9	C	T	14: 51,276,673 (GRCm39)	V102M	probably benign	Het
Rpgrip1l	A	C	8: 91,987,426 (GRCm39)	M877R	probably benign	Het
Ryr3	T	C	2: 112,705,436 (GRCm39)	Y806C	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Sympk	A	G	7: 18,771,968 (GRCm39)	D344G	probably benign	Het
Tcf12	G	A	9: 71,914,041 (GRCm39)	Q76*	probably null	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Ttc19	A	G	11: 62,204,863 (GRCm39)	Y318C	probably damaging	Het
Vmn2r17	T	A	5: 109,600,533 (GRCm39)	D610E	probably benign	Het
Wdr24	A	G	17: 26,047,209 (GRCm39)	T701A	possibly damaging	Het
Zfp268	T	C	4: 145,347,186 (GRCm39)	L30P	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
R4917:Rhot1	UTSW	11	80,100,027 (GRCm39)	utr 5 prime	probably benign
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
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'- GACTGACTGAACCTACTATCTGG -3'
(R):5'- ACACATTTTCCTTTGTGGACAG -3'

Sequencing Primer
(F):5'- GCTTGACCAAGTTACGATGGG -3'
(R):5'- TTGTGGACAGTACCAAGATCTCC -3'

Posted On

2018-11-28