Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Rhot1'

503733

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

044349-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80099845-80158733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80141885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 463 (R463H)

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
AA Change: R463H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: R463H

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
AA Change: R463H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: R463H

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
AA Change: R463H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: R463H

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
AA Change: R463H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: R463H

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

unknown
Transcript: ENSMUST00000134894
AA Change: R224H

SMART Domains

Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686
AA Change: R224H

Domain	Start	End	E-Value	Type
Pfam:EF_assoc_2	1	80	1.3e-34	PFAM
Blast:EFh	83	111	2e-10	BLAST
Pfam:EF_assoc_1	116	188	4.3e-33	PFAM
Pfam:Ras	195	331	1.3e-7	PFAM
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151518

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh3	G	A	2: 93,838,881 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm39)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Pfkp	A	T	13: 6,669,224 (GRCm39)	L253H	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,308,947 (GRCm39)	C300R	probably damaging	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Terf1	C	T	1: 15,889,221 (GRCm39)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	probably benign	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
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'- GGCTCCAGAATATCTGCTCAC -3'
(R):5'- CCCGCATTCAGCATAACTGC -3'

Sequencing Primer
(F):5'- GGCTCCAGAATATCTGCTCACTAATC -3'
(R):5'- CTGCCATGAAATGAAAGCTAGTTTG -3'

Posted On

2018-02-27