Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Rhbdl3'

58344

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Vrho, Ventrhoid, Rhbdl4

MMRRC Submission

038805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0616 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

80300912-80355955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80331861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 245 (H245Q)

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017836]

AlphaFold

P58873

Predicted Effect

probably damaging
Transcript: ENSMUST00000017836
AA Change: H245Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: H245Q

Domain	Start	End	E-Value	Type
SCOP:d1c7va_	36	104	2e-12	SMART
Blast:EFh	38	66	6e-11	BLAST
PDB:2RRT\|A	43	102	6e-6	PDB
Blast:EFh	74	102	9e-10	BLAST
transmembrane domain	162	184	N/A	INTRINSIC
Pfam:Rhomboid	205	362	1.6e-34	PFAM
transmembrane domain	370	392	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	G	T	14: 49,773,656	T198K	possibly damaging	Het
Abca12	G	T	1: 71,302,671	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,654,070	T723S	probably damaging	Het
Ackr3	G	A	1: 90,214,469	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Arap1	A	G	7: 101,401,650	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,116,717		probably null	Het
Arhgap5	C	T	12: 52,517,065	T273I	possibly damaging	Het
BC017158	A	T	7: 128,272,631		probably null	Het
C1s2	T	C	6: 124,628,764	E332G	probably damaging	Het
Camp	G	A	9: 109,848,639	R88W	probably benign	Het
Cdkl2	A	G	5: 92,009,004	M564T	probably benign	Het
Ceacam20	A	G	7: 19,970,396	H124R	probably benign	Het
Cep19	C	T	16: 32,104,011	R32C	probably damaging	Het
Cep295	G	A	9: 15,332,322	Q1565*	probably null	Het
Chd3	T	C	11: 69,345,487	E1932G	probably damaging	Het
Cnr2	G	T	4: 135,917,562	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,580,549	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,727,305	N200I	probably benign	Het
Dock4	T	C	12: 40,704,415	S468P	probably benign	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Fam126a	T	C	5: 23,986,772	T44A	probably damaging	Het
Fam217a	C	A	13: 34,913,683	S55I	probably benign	Het
Fam92a	G	A	4: 12,168,234	R210*	probably null	Het
Farp1	G	A	14: 121,277,022	R921H	probably damaging	Het
Fat4	A	G	3: 38,942,870	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,502,505	F100L	probably damaging	Het
Gli3	C	A	13: 15,662,406	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,270,937	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,116,432	E159G	probably benign	Het
Grm4	A	T	17: 27,434,564	I757N	probably damaging	Het
Hagh	A	G	17: 24,857,577	Y94C	probably damaging	Het
Itpkb	T	C	1: 180,421,736	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,850,484	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,467,775	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,299,252	I275T	probably benign	Het
Lingo4	A	G	3: 94,403,081	K442R	probably benign	Het
Mak	T	C	13: 41,042,185	N382D	probably benign	Het
Maob	G	A	X: 16,710,163	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,515,025	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,526,898		probably null	Het
Muc5ac	A	G	7: 141,796,244	M576V	probably benign	Het
Nme8	T	A	13: 19,690,859	D126V	probably benign	Het
Npy2r	T	A	3: 82,541,363	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,362,857	D193G	probably damaging	Het
Olfr1257	T	A	2: 89,881,591	V255E	probably benign	Het
Olfr130	A	C	17: 38,067,240	E23A	probably damaging	Het
Olfr1391	T	C	11: 49,327,756	L115P	probably damaging	Het
Olfr1537	G	A	9: 39,237,650	T258M	probably benign	Het
Olfr214	A	G	6: 116,556,928	I168V	probably benign	Het
Olfr548-ps1	T	A	7: 102,542,554	M206K	possibly damaging	Het
Olfr895	G	T	9: 38,269,334	V266L	probably benign	Het
Olfr918	A	T	9: 38,673,480	M1K	probably null	Het
Olfr984	A	T	9: 40,100,987	F168I	probably damaging	Het
Pabpc2	A	T	18: 39,773,739	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,401,975	K341*	probably null	Het
Pde4dip	T	C	3: 97,747,533	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,706,422		probably null	Het
Pigg	C	T	5: 108,314,085	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,100,831	F1353L	probably damaging	Het
Prg4	T	C	1: 150,460,711	D87G	probably damaging	Het
Prkdc	A	T	16: 15,690,407	D974V	probably damaging	Het
Prmt3	A	G	7: 49,787,328	Y217C	probably damaging	Het
Proser1	A	G	3: 53,474,697	T192A	probably damaging	Het
Rab3d	G	A	9: 21,914,764	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,244,262	K386R	possibly damaging	Het
Rcn2	A	G	9: 56,056,250	D221G	probably benign	Het
Ribc1	T	C	X: 152,005,791	E204G	probably damaging	Het
Rpap1	G	A	2: 119,778,120	L254F	probably damaging	Het
Rrp12	A	G	19: 41,892,549	F148L	possibly damaging	Het
Setdb1	A	T	3: 95,341,798	I333K	probably damaging	Het
Simc1	A	G	13: 54,547,032	I1210V	probably benign	Het
Smchd1	T	A	17: 71,379,574	D1379V	probably benign	Het
Snap29	A	T	16: 17,422,506	K159*	probably null	Het
Spdye4c	A	T	2: 128,594,212	K176M	possibly damaging	Het
Stk31	T	A	6: 49,423,485	W415R	probably damaging	Het
Supt6	C	T	11: 78,209,495	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,276,156	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,846,623		probably null	Het
Ttn	A	G	2: 76,897,667		probably benign	Het
Ucp3	A	T	7: 100,480,161	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,089,477	N316D	probably benign	Het
Usp4	T	G	9: 108,366,804	S247A	probably benign	Het
Utp20	A	T	10: 88,770,751	V1653D	probably benign	Het
Vmn1r183	A	G	7: 24,054,825	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,314,623	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,610,999	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,521,129	R758P	probably damaging	Het

Other mutations in Rhbdl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Rhbdl3	APN	11	80353442	missense	probably damaging	1.00
IGL02003:Rhbdl3	APN	11	80337516	missense	possibly damaging	0.82
IGL02302:Rhbdl3	APN	11	80353681	makesense	probably null
IGL02972:Rhbdl3	APN	11	80331916	splice site	probably benign
IGL03028:Rhbdl3	APN	11	80323461	nonsense	probably null
IGL03033:Rhbdl3	APN	11	80346827	missense	probably damaging	0.99
IGL03113:Rhbdl3	APN	11	80353613	missense	possibly damaging	0.69
R0193:Rhbdl3	UTSW	11	80353574	missense	possibly damaging	0.55
R0358:Rhbdl3	UTSW	11	80353631	missense	probably damaging	0.99
R0481:Rhbdl3	UTSW	11	80323349	splice site	probably benign
R1171:Rhbdl3	UTSW	11	80353592	missense	possibly damaging	0.52
R2166:Rhbdl3	UTSW	11	80319697	missense	probably damaging	1.00
R3500:Rhbdl3	UTSW	11	80319705	missense	probably damaging	0.98
R4580:Rhbdl3	UTSW	11	80353645	missense	probably damaging	1.00
R4900:Rhbdl3	UTSW	11	80319613	missense	probably benign	0.13
R5276:Rhbdl3	UTSW	11	80319666	missense	probably benign	0.07
R5513:Rhbdl3	UTSW	11	80331842	missense	probably damaging	0.99
R5595:Rhbdl3	UTSW	11	80337583	missense	probably damaging	0.99
R5941:Rhbdl3	UTSW	11	80331889	missense	probably benign	0.18
R6372:Rhbdl3	UTSW	11	80330656	missense	probably damaging	1.00
R6935:Rhbdl3	UTSW	11	80337496	missense	probably damaging	1.00
R7252:Rhbdl3	UTSW	11	80337585	missense	possibly damaging	0.60
R7389:Rhbdl3	UTSW	11	80346839	missense	possibly damaging	0.95
R7404:Rhbdl3	UTSW	11	80346833	missense	probably damaging	1.00
R7745:Rhbdl3	UTSW	11	80323579	missense	possibly damaging	0.74
R7768:Rhbdl3	UTSW	11	80330621	missense	probably benign
R8669:Rhbdl3	UTSW	11	80353513	missense	probably damaging	1.00
R9557:Rhbdl3	UTSW	11	80353451	missense	probably benign	0.37
R9779:Rhbdl3	UTSW	11	80323491	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTCCCCATGAGAGTCAAGTCCCC -3'
(R):5'- GGCCTGTTCCAATCATATGCTCTGC -3'

Sequencing Primer
(F):5'- TGAGAGTCAAGTCCCCTCCAC -3'
(R):5'- TGCCTAGCAGACAATTCTGAGTC -3'

Posted On

2013-07-11