Mutagenetix > Incidental Mutation

Incidental Mutation 'R8322:Rhot1'

642027

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8322 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80209019-80267907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80257560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 609 (C609S)

Ref Sequence

ENSEMBL: ENSMUSP00000057669 (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

possibly damaging
Transcript: ENSMUST00000055056
AA Change: C609S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: C609S

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 damaging
Transcript: ENSMUST00000077451
AA Change: C641S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: C641S

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

SMART Domains

Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686
AA Change: C370S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,445,375	S209G	probably benign	Het
Aars	T	C	8: 111,045,528	L450P	possibly damaging	Het
Acsbg1	G	A	9: 54,615,984	T453M	probably benign	Het
Aff3	A	G	1: 38,181,661	S1100P	possibly damaging	Het
B4galt5	G	A	2: 167,348,929	A35V	probably benign	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
C1qtnf1	T	C	11: 118,447,857	S118P	probably benign	Het
Ceacam20	A	T	7: 19,971,703	E206D	probably damaging	Het
Celsr3	T	C	9: 108,848,794	L3066P	probably damaging	Het
Cers3	T	G	7: 66,789,638	L299R	probably damaging	Het
Cfhr2	G	T	1: 139,810,958	H288Q	probably benign	Het
Cnot1	A	T	8: 95,769,844	M278K	probably benign	Het
Cnot10	T	C	9: 114,627,469	E166G	probably damaging	Het
Ctsd	T	A	7: 142,385,460	D76V	probably damaging	Het
Cyp1a1	T	A	9: 57,702,720	F472L	probably damaging	Het
Dupd1	A	T	14: 21,702,882	D65E	probably damaging	Het
Dusp19	T	A	2: 80,624,291	D118E	probably damaging	Het
Eif2ak3	C	A	6: 70,878,919	R236S	probably damaging	Het
Fam169a	A	G	13: 97,122,752	T439A	probably benign	Het
Flg	T	C	3: 93,284,332	Y11H	unknown	Het
Fn1	T	A	1: 71,628,459	I792L	probably benign	Het
Fzd7	T	C	1: 59,483,083	S42P	probably benign	Het
Gimap3	A	G	6: 48,765,436	S187P	possibly damaging	Het
Gli1	C	A	10: 127,331,608	R592L	probably damaging	Het
Glt8d2	A	T	10: 82,662,203	I124N	probably damaging	Het
Hbp1	C	T	12: 31,933,388	D356N	probably damaging	Het
Hif1a	T	C	12: 73,939,599	S367P	probably benign	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Itpr1	C	A	6: 108,388,229	N880K	probably benign	Het
Kank1	T	C	19: 25,378,478		probably benign	Het
Kat2a	T	C	11: 100,712,290	T39A	unknown	Het
Kcnk2	T	A	1: 189,339,849	Q98L	probably benign	Het
Kcnn4	G	A	7: 24,384,120	G409S	probably benign	Het
Klrb1	T	A	6: 128,713,613	I49F	probably damaging	Het
Larp4	G	A	15: 100,010,356	V573I	probably benign	Het
Lrpprc	A	G	17: 84,740,068		probably null	Het
Mybl1	A	G	1: 9,676,281	S385P	probably damaging	Het
Nup62	T	C	7: 44,829,016	S152P	possibly damaging	Het
Olfr96	A	G	17: 37,225,350	Y75C	probably damaging	Het
Pcdh12	G	A	18: 38,281,577	Q832*	probably null	Het
Pcid2	A	G	8: 13,078,555	I368T	probably damaging	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pi4ka	A	G	16: 17,357,573	Y464H		Het
Plekhg5	T	G	4: 152,104,744	S260R	possibly damaging	Het
Prkdc	T	A	16: 15,714,141		probably benign	Het
Prr14	A	T	7: 127,473,827	E115D	probably benign	Het
Rab3gap2	A	T	1: 185,246,680	N285Y	probably benign	Het
Rnf123	T	C	9: 108,068,507	Q360R	probably benign	Het
Rnf219	A	T	14: 104,479,655	D427E	probably damaging	Het
Rrp12	T	C	19: 41,880,219	T562A	probably benign	Het
Rundc1	G	A	11: 101,432,166	G317D	probably benign	Het
Slc14a1	A	T	18: 78,102,441	I426N	possibly damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc45a3	A	G	1: 131,977,785	D182G	probably damaging	Het
Sos1	A	T	17: 80,408,299	F1010I	probably damaging	Het
Tap1	A	G	17: 34,193,189	E456G	probably damaging	Het
Tha1	A	T	11: 117,868,667	V332E	probably damaging	Het
Tmem18	T	A	12: 30,588,518	I93N	probably damaging	Het
Tnrc18	A	G	5: 142,726,012	F2664S	probably damaging	Het
Tpm3	T	A	3: 90,073,704		probably benign	Het
Ttc3	A	G	16: 94,454,492	E1615G	probably damaging	Het
Ube3b	A	G	5: 114,402,686	T485A	probably benign	Het
Vmn2r92	A	G	17: 18,166,624	Y75C	probably damaging	Het
Zfp169	T	C	13: 48,491,099	D184G	unknown	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
R5941:Rhot1	UTSW	11	80251170	intron	probably benign
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
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'- TTAGCATGCCCCACACTGTC -3'
(R):5'- GCCACCACATTGAGACTTTC -3'

Sequencing Primer
(F):5'- GTCCTTCTCCTTTCTACAAACAATG -3'
(R):5'- CCACATTGAGACTTTCAGTGGGAG -3'

Posted On

2020-07-28