Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Rhot1'

460286

Institutional Source

Beutler Lab

Gene Symbol

Rhot1

Ensembl Gene

ENSMUSG00000017686

Gene Name

ras homolog family member T1

Synonyms

2210403N23Rik, Arht1, C430039G08Rik, FLJ11040, Miro1

MMRRC Submission

044133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80209019-80267907 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 80251170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000134894

SMART Domains

Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686

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: ENSMUST00000151518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154362

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,591,098	D70E	probably damaging	Het
Adamts14	C	T	10: 61,221,895	G561R	probably damaging	Het
Alpk3	A	T	7: 81,078,653	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,440,273	N269D	probably benign	Het
Ap3b1	T	C	13: 94,483,265	S144P	probably damaging	Het
Apba2	C	A	7: 64,745,716	Q635K	probably benign	Het
Aspg	C	T	12: 112,113,085	T99I	probably benign	Het
Atp7b	A	G	8: 21,997,496	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,320,048	V215A	probably damaging	Het
Bcl2l11	C	A	2: 128,127,783		probably benign	Het
Bglap3	T	G	3: 88,376,346		probably benign	Het
Cchcr1	G	A	17: 35,524,993	R284Q	probably damaging	Het
Cdh26	C	T	2: 178,481,650	Q662*	probably null	Het
Cftr	T	A	6: 18,313,646	F1290I	probably damaging	Het
Clip3	G	A	7: 30,292,306	E36K	probably damaging	Het
Cog2	A	G	8: 124,546,086	I541V	probably benign	Het
Cpt1b	A	T	15: 89,425,214	W39R	probably damaging	Het
Csmd1	A	G	8: 15,932,471	V2732A	probably damaging	Het
Dlec1	A	G	9: 119,126,312	D688G	probably damaging	Het
Dnah12	A	G	14: 26,706,867	E216G	probably benign	Het
Dnah7b	C	A	1: 46,187,290	L1294I	probably damaging	Het
Duox1	T	A	2: 122,344,156	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,431,317	D358E	probably benign	Het
Fat3	A	C	9: 15,999,501	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676	M414K	probably benign	Het
Gm21915	A	C	9: 40,670,699	E29D	possibly damaging	Het
Gm340	G	A	19: 41,586,400	R1198Q	probably damaging	Het
Gm9955	G	A	18: 24,709,263		probably benign	Het
Gpat2	C	A	2: 127,428,275	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,736,373	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,215,131	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,321,356	Y139C	probably damaging	Het
Ints2	G	C	11: 86,250,972	N216K	probably benign	Het
Jmy	G	A	13: 93,498,825	P161L	probably benign	Het
Kctd11	G	A	11: 69,879,973	R80W	possibly damaging	Het
Kif7	A	G	7: 79,711,132		probably benign	Het
Kifc1	C	T	17: 33,883,085		probably benign	Het
Mir412	C	A	12: 109,743,299		noncoding transcript	Het
Mknk1	T	A	4: 115,876,637		probably benign	Het
Mmp16	A	G	4: 18,054,354		probably benign	Het
Mmp7	A	G	9: 7,697,645	H227R	probably damaging	Het
Myh4	A	C	11: 67,259,300	D1861A	probably damaging	Het
Nup205	T	C	6: 35,232,408	L1550P	probably damaging	Het
Olfr1218	T	A	2: 89,054,619	H269L	probably benign	Het
Olfr1510	C	T	14: 52,410,068	G268D	probably benign	Het
Olfr444	G	T	6: 42,955,716	A73S	possibly damaging	Het
Olfr48	T	A	2: 89,844,515	I153F	probably benign	Het
Olfr609	A	G	7: 103,492,720	S53P	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,976,107	C35*	probably null	Het
Pappa	T	A	4: 65,314,593	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,774,073	F519Y	probably damaging	Het
Pigk	T	C	3: 152,766,513	I354T	possibly damaging	Het
Plekha7	T	C	7: 116,124,805	D1265G	possibly damaging	Het
Prss12	A	G	3: 123,505,501	R641G	probably benign	Het
Prss28	A	G	17: 25,309,743	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,561,896	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,732,069	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,392,237	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,728,738	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,331,889	V255M	probably benign	Het
Rita1	A	C	5: 120,609,561	V224G	probably benign	Het
Ryr2	T	A	13: 11,687,902	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,420,308	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,612,421	S159T	probably benign	Het
Setd5	T	A	6: 113,128,490	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Sipa1l2	A	G	8: 125,473,536	S684P	probably damaging	Het
Stard9	A	T	2: 120,713,558	I4446F	probably damaging	Het
Sult1c2	T	C	17: 53,831,898	D217G	probably benign	Het
Supt16	C	A	14: 52,182,196	K148N	probably benign	Het
Syne3	G	A	12: 104,946,992	S570L	probably benign	Het
Tcf3	G	T	10: 80,413,044	D534E	probably benign	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Trbv3	T	C	6: 41,048,401	I3T	probably benign	Het
Trbv4	T	A	6: 41,059,629	Y29*	probably null	Het
Ttl	A	G	2: 129,075,984	N122S	probably benign	Het
Txndc11	T	C	16: 11,075,071	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,739,340	M1V	probably null	Het
Uqcrc1	A	G	9: 108,947,486		probably benign	Het
Utrn	T	C	10: 12,486,483	D2702G	probably damaging	Het
Vcan	T	A	13: 89,692,691	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,031,202		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Zap70	G	A	1: 36,770,949	V47M	probably damaging	Het
Zfp770	A	G	2: 114,197,546	M14T	possibly damaging	Het
Zufsp	C	T	10: 33,949,462	G8D	probably damaging	Het

Other mutations in Rhot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Rhot1	APN	11	80226102	missense	probably benign	0.27
IGL01335:Rhot1	APN	11	80250229	missense	probably damaging	1.00
IGL01631:Rhot1	APN	11	80265774	missense	probably damaging	1.00
IGL03009:Rhot1	APN	11	80220254	splice site	probably null
IGL03106:Rhot1	APN	11	80242581	nonsense	probably null
R0554:Rhot1	UTSW	11	80243438	nonsense	probably null
R0720:Rhot1	UTSW	11	80223943	missense	probably damaging	1.00
R1319:Rhot1	UTSW	11	80246021	missense	probably damaging	0.98
R3825:Rhot1	UTSW	11	80226081	missense	probably damaging	0.98
R4713:Rhot1	UTSW	11	80225602	missense	probably benign	0.00
R4917:Rhot1	UTSW	11	80209201	utr 5 prime	probably benign
R4971:Rhot1	UTSW	11	80233474	missense	probably damaging	1.00
R5159:Rhot1	UTSW	11	80220272	missense	probably damaging	1.00
R5177:Rhot1	UTSW	11	80246766	missense	possibly damaging	0.90
R5231:Rhot1	UTSW	11	80227334	critical splice donor site	probably null
R5659:Rhot1	UTSW	11	80250355	splice site	probably null
R6216:Rhot1	UTSW	11	80251059	missense	probably benign	0.00
R6920:Rhot1	UTSW	11	80242095	missense	probably benign	0.36
R6984:Rhot1	UTSW	11	80233484	nonsense	probably null
R7199:Rhot1	UTSW	11	80246734	missense	probably damaging	1.00
R7383:Rhot1	UTSW	11	80223934	missense	probably damaging	1.00
R7453:Rhot1	UTSW	11	80248540	critical splice donor site	probably null
R7922:Rhot1	UTSW	11	80265803	missense	probably benign	0.01
R7996:Rhot1	UTSW	11	80257537	missense	probably damaging	1.00
R8116:Rhot1	UTSW	11	80251053	missense	probably benign	0.00
R8298:Rhot1	UTSW	11	80246676	missense	probably benign	0.01
R8322:Rhot1	UTSW	11	80257560	missense	possibly damaging	0.95
R8371:Rhot1	UTSW	11	80243466	missense	probably damaging	1.00
R8408:Rhot1	UTSW	11	80223960	missense	probably damaging	1.00
R9155:Rhot1	UTSW	11	80257554	missense	probably null	0.59
R9338:Rhot1	UTSW	11	80254742	missense	probably benign	0.08
Z1176:Rhot1	UTSW	11	80242621	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGTGAACTAAGGTATGTGCTG -3'
(R):5'- AGAGAAAGATGTGTTTGTGTGCG -3'

Sequencing Primer
(F):5'- GGTATGTGCTGATGAAAAGAAGTTAC -3'
(R):5'- AGGACACTGTAGCTGTCTTCAGAC -3'

Posted On

2017-02-28