Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Rhot1'

275356

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

040774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80099845-80158733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80116907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 94 (V94I)

Ref Sequence

ENSEMBL: ENSMUSP00000090533 (fasta)

Gene Model

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

AlphaFold

Q8BG51

Predicted Effect

probably damaging
Transcript: ENSMUST00000017831
AA Change: V94I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: V94I

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: V94I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: V94I

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: V94I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: V94I

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: V94I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: V94I

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

noncoding transcript
Transcript: ENSMUST00000154362

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Map4k2	C	A	19: 6,394,081 (GRCm39)	T252N	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nectin2	T	C	7: 19,458,510 (GRCm39)	K434E	possibly damaging	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ppp2r2a	A	G	14: 67,259,892 (GRCm39)	L268P	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Ss18l1	A	T	2: 179,705,103 (GRCm39)	Q365L	unknown	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	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
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
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'- CCAGGAATTTCTCAATTGGTACTTG -3'
(R):5'- TGTGGGCTAGGATACAGAGC -3'

Sequencing Primer
(F):5'- CAGAAAATTTCCCCCTTTGG -3'
(R):5'- ACTCTGTGAGTTCAAGGCTAGAC -3'

Posted On

2015-04-02