Mutagenetix > Incidental Mutation

Incidental Mutation 'R8015:Rhbdl1'

617151

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl1

Ensembl Gene

ENSMUSG00000025735

Gene Name

rhomboid like 1

Synonyms

Rhbdl

MMRRC Submission

067455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26053439-26056101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 26054825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 157 (V157L)

Ref Sequence

ENSEMBL: ENSMUSP00000026831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000043897] [ENSMUST00000044911] [ENSMUST00000133595] [ENSMUST00000183929] [ENSMUST00000184865]

AlphaFold

Q8VC82

Predicted Effect

probably damaging
Transcript: ENSMUST00000026831
AA Change: V157L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
AA Change: V157L

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	5e-7	SMART
Blast:EFh	43	71	9e-11	BLAST
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:Rhomboid	174	331	6.7e-36	PFAM
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026832

SMART Domains

Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
JmjC	140	271	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043897

SMART Domains

Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733

Domain	Start	End	E-Value	Type
Pfam:Roc	6	122	4.1e-11	PFAM
Pfam:Ras	6	168	2.3e-18	PFAM
EFh	188	216	1.27e1	SMART
Pfam:EF_assoc_2	219	305	2.2e-35	PFAM
EFh	308	336	1.23e-1	SMART
Pfam:EF_assoc_1	341	412	1.8e-25	PFAM
Blast:AAA	416	547	7e-18	BLAST
SCOP:d1mh1__	422	532	4e-8	SMART
transmembrane domain	595	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000044911

SMART Domains

Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
TPR	27	60	2.43e1	SMART
TPR	61	94	1.48e-7	SMART
TPR	95	128	4.52e-3	SMART
low complexity region	168	180	N/A	INTRINSIC
Ubox	231	294	1.27e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133595

SMART Domains

Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
transmembrane domain	55	74	N/A	INTRINSIC
JmjC	185	316	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

probably benign
Transcript: ENSMUST00000183929
AA Change: V161L

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: V161L

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	9e-6	SMART
Blast:EFh	43	70	2e-9	BLAST
transmembrane domain	136	155	N/A	INTRINSIC
Pfam:Rhomboid	178	327	1e-27	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184865
AA Change: V103L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.3041

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alad	A	G	4: 62,430,159 (GRCm39)	V121A	probably damaging	Het
Anapc2	T	A	2: 25,174,688 (GRCm39)	Y684N	probably benign	Het
Atp10a	G	T	7: 58,453,245 (GRCm39)	R808L	probably benign	Het
Best2	A	G	8: 85,735,983 (GRCm39)	V317A	probably damaging	Het
Bmal2	T	C	6: 146,722,088 (GRCm39)	S220P	probably damaging	Het
Cacnb4	A	G	2: 52,354,655 (GRCm39)	L241P	probably damaging	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Defb13	G	T	8: 22,436,828 (GRCm39)	V8F	possibly damaging	Het
Dpp6	C	T	5: 27,022,808 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,036,065 (GRCm39)	D3239G	possibly damaging	Het
Hmcn1	T	G	1: 150,474,062 (GRCm39)	R4793S	possibly damaging	Het
Hspa1a	T	A	17: 35,189,625 (GRCm39)	Q426L	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Il20rb	T	A	9: 100,356,947 (GRCm39)	Y61F	probably damaging	Het
Iqcn	C	T	8: 71,169,441 (GRCm39)	S1177L	probably benign	Het
Itgb1	T	A	8: 129,448,882 (GRCm39)	V496D	possibly damaging	Het
Jakmip1	T	C	5: 37,317,109 (GRCm39)	S102P	unknown	Het
Jmjd8	T	A	17: 26,048,302 (GRCm39)	F108I	probably damaging	Het
Krtap15-1	A	G	16: 88,626,097 (GRCm39)	T55A	possibly damaging	Het
Lce3d	A	T	3: 92,865,810 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,766,761 (GRCm39)	V702F	probably damaging	Het
Lox	G	A	18: 52,661,420 (GRCm39)	A218V	probably benign	Het
Mcrs1	T	A	15: 99,146,735 (GRCm39)	K99*	probably null	Het
Mfsd8	G	A	3: 40,801,270 (GRCm39)		probably benign	Het
Msto1	G	T	3: 88,818,863 (GRCm39)	P264Q	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or2ad1	T	C	13: 21,326,303 (GRCm39)	D308G	probably benign	Het
Or5g25	G	T	2: 85,478,136 (GRCm39)	H176Q	probably damaging	Het
Pate2	A	T	9: 35,581,814 (GRCm39)	H36L	probably damaging	Het
Pate9	A	G	9: 36,446,250 (GRCm39)	V54A	probably benign	Het
Phf20l1	T	G	15: 66,511,797 (GRCm39)	N925K	possibly damaging	Het
Pnliprp2	G	T	19: 58,754,714 (GRCm39)	V253F	probably damaging	Het
Polr2b	A	G	5: 77,484,353 (GRCm39)	D745G	probably damaging	Het
Ptdss1	T	A	13: 67,111,407 (GRCm39)	W158R	possibly damaging	Het
Rcn3	T	A	7: 44,734,331 (GRCm39)	I226F	probably damaging	Het
Slc30a2	A	G	4: 134,074,761 (GRCm39)	T173A	probably benign	Het
Spata16	A	G	3: 26,721,808 (GRCm39)	T110A	probably benign	Het
Specc1l	A	G	10: 75,076,902 (GRCm39)	K53E	probably benign	Het
Speg	G	T	1: 75,392,065 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,067,737 (GRCm39)	C2055S	probably damaging	Het
Tex14	G	A	11: 87,400,426 (GRCm39)	R406Q	probably benign	Het
Tmem150b	C	T	7: 4,719,327 (GRCm39)	G198S	probably null	Het
Tnfrsf14	T	G	4: 155,011,118 (GRCm39)	Q81P	probably damaging	Het
Txndc17	A	G	11: 72,098,568 (GRCm39)	K40R	probably benign	Het
Ube3a	T	A	7: 58,934,504 (GRCm39)	V560E	probably damaging	Het
Vmn1r14	A	G	6: 57,211,015 (GRCm39)	M198V	probably damaging	Het
Vmn2r23	G	A	6: 123,681,500 (GRCm39)	S136N	probably benign	Het
Vmn2r31	C	T	7: 7,387,199 (GRCm39)	V791I	probably damaging	Het
Wdfy4	T	C	14: 32,829,704 (GRCm39)	Y984C		Het
Zfp386	T	G	12: 116,023,027 (GRCm39)	D248E	probably damaging	Het

Other mutations in Rhbdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Rhbdl1	APN	17	26,055,112 (GRCm39)	missense	possibly damaging	0.62
R1672:Rhbdl1	UTSW	17	26,055,383 (GRCm39)	critical splice donor site	probably null
R1922:Rhbdl1	UTSW	17	26,054,513 (GRCm39)	missense	probably damaging	1.00
R4976:Rhbdl1	UTSW	17	26,054,002 (GRCm39)	nonsense	probably null
R5500:Rhbdl1	UTSW	17	26,055,528 (GRCm39)	missense	possibly damaging	0.83
R6293:Rhbdl1	UTSW	17	26,053,943 (GRCm39)	missense	probably damaging	1.00
R6296:Rhbdl1	UTSW	17	26,053,943 (GRCm39)	missense	probably damaging	1.00
R6535:Rhbdl1	UTSW	17	26,054,799 (GRCm39)	nonsense	probably null
R6848:Rhbdl1	UTSW	17	26,055,158 (GRCm39)	nonsense	probably null
R7619:Rhbdl1	UTSW	17	26,055,991 (GRCm39)	missense	possibly damaging	0.85
R7721:Rhbdl1	UTSW	17	26,055,123 (GRCm39)	missense	probably benign	0.10
R7746:Rhbdl1	UTSW	17	26,055,167 (GRCm39)	missense	probably benign	0.06
R8831:Rhbdl1	UTSW	17	26,053,857 (GRCm39)	missense	probably damaging	0.99
R8943:Rhbdl1	UTSW	17	26,054,116 (GRCm39)	missense	probably damaging	1.00
R9496:Rhbdl1	UTSW	17	26,055,371 (GRCm39)	critical splice donor site	probably null
R9781:Rhbdl1	UTSW	17	26,055,443 (GRCm39)	missense	probably benign
X0009:Rhbdl1	UTSW	17	26,055,383 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGCCTTCAGAGTCAGTGGGC -3'
(R):5'- ATGTGGCCTACGAGATCCTG -3'

Sequencing Primer
(F):5'- CTTCAGAGTCAGTGGGCAGGTG -3'
(R):5'- TGGTACTTCTACAGGCACCG -3'

Posted On

2020-01-23