Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Rhot1'

646401

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

067740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80099845-80158733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80134292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 295 (L295P)

Ref Sequence

ENSEMBL: ENSMUSP00000057669 (fasta)

Gene Model

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

AlphaFold

Q8BG51

Predicted Effect

probably damaging
Transcript: ENSMUST00000017831
AA Change: L295P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: L295P

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 damaging
Transcript: ENSMUST00000055056
AA Change: L295P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: L295P

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: L295P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: L295P

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 damaging
Transcript: ENSMUST00000092857
AA Change: L295P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: L295P

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: L56P

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: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Chd8	T	C	14: 52,470,275 (GRCm39)	K445R	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
CN725425	T	C	15: 91,124,973 (GRCm39)	I171T	probably benign	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,561,384 (GRCm39)	I164F	possibly damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or2n1c	G	A	17: 38,519,189 (GRCm39)	A18T	probably benign	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	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
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
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
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'- AGTGTACCAGTTCTCCCAGG -3'
(R):5'- CAGCTCACCATCCTGTAGTG -3'

Sequencing Primer
(F):5'- GTACCAGTTCTCCCAGGCCTAG -3'
(R):5'- CTACAGAGTGAGTTCTAAGTCAGCC -3'

Posted On

2020-09-02