Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Rhot1'

539593

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 #

R6920 (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 80242095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 218 (N218K)

Ref Sequence

ENSEMBL: ENSMUSP00000017831 (fasta)

Gene Model

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

AlphaFold

Q8BG51

Predicted Effect

probably benign
Transcript: ENSMUST00000017831
AA Change: N218K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: N218K

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: N218K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: N218K

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: N218K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: N218K

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: N218K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: N218K

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Aadat	T	C	8: 60,529,433	F245L	probably damaging	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anks4b	A	T	7: 120,183,008	T421S	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klc1	T	C	12: 111,787,585	S105P	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,565,835		probably benign	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,533,086	S67P	probably damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	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
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'- ACCTCCATGTTCAGACTCCG -3'
(R):5'- AAGCCTCCATTCCTAGGACTAAG -3'

Sequencing Primer
(F):5'- TCCATGTTCAGACTCCGTACTAAAC -3'
(R):5'- ACTAAGAGGCTTTTTATATCCTGGG -3'

Posted On

2018-11-06