Mutagenetix > Incidental Mutation

Incidental Mutation 'R1672:Rhbdl1'

187756

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl1

Ensembl Gene

ENSMUSG00000025735

Gene Name

rhomboid like 1

Synonyms

Rhbdl

MMRRC Submission

039708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1672 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

26053439-26056101 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 26055383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026831 (fasta)

Gene Model

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

AlphaFold

Q8VC82

Predicted Effect

probably null
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

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 null
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

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 null
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

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

noncoding transcript
Transcript: ENSMUST00000175335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176522

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

probably benign
Transcript: ENSMUST00000183929
AA Change: V68D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: V68D

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

noncoding transcript
Transcript: ENSMUST00000176602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177122

Predicted Effect

probably benign
Transcript: ENSMUST00000184865

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,424,096 (GRCm39)	Q132*	probably null	Het
Aadacl4	T	A	4: 144,349,889 (GRCm39)	L382*	probably null	Het
Afg3l2	A	G	18: 67,540,493 (GRCm39)	I672T	probably benign	Het
Aftph	A	T	11: 20,676,762 (GRCm39)	D282E	probably benign	Het
Agpat5	A	G	8: 18,920,930 (GRCm39)	N161S	probably benign	Het
Alpk2	C	T	18: 65,414,030 (GRCm39)	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,723 (GRCm39)	R745G	probably benign	Het
Arrdc5	T	C	17: 56,607,144 (GRCm39)	T34A	possibly damaging	Het
Astl	T	C	2: 127,189,163 (GRCm39)	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,027,005 (GRCm39)	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,151,092 (GRCm39)	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Brinp1	T	C	4: 68,747,520 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,340,570 (GRCm39)	N578S	probably benign	Het
Casp2	T	A	6: 42,245,842 (GRCm39)	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,777,544 (GRCm39)	I301N	probably damaging	Het
Chtop	T	A	3: 90,414,874 (GRCm39)	T15S	probably damaging	Het
Coq5	T	A	5: 115,417,975 (GRCm39)		probably null	Het
Crbn	G	A	6: 106,772,886 (GRCm39)	P34L	probably damaging	Het
Crisp1	G	T	17: 40,619,760 (GRCm39)	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 33,128,210 (GRCm39)	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,770,621 (GRCm39)	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb25	T	C	2: 152,464,410 (GRCm39)	M45V	probably benign	Het
Dffa	T	C	4: 149,190,702 (GRCm39)	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,601,164 (GRCm39)	Q361R	probably damaging	Het
Dnah1	A	G	14: 30,998,157 (GRCm39)	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,080,601 (GRCm39)	T108A	probably benign	Het
Fam149a	T	G	8: 45,792,411 (GRCm39)		probably null	Het
Fam20c	A	G	5: 138,793,056 (GRCm39)	Y430C	probably damaging	Het
Fat1	A	G	8: 45,489,872 (GRCm39)	T3595A	probably damaging	Het
Fbp1	A	G	13: 63,015,245 (GRCm39)	Y245H	probably damaging	Het
Frem1	C	T	4: 82,917,128 (GRCm39)	R605H	probably benign	Het
Fscb	A	G	12: 64,518,292 (GRCm39)	I1058T	unknown	Het
Fyb2	A	G	4: 104,808,059 (GRCm39)	K373R	probably benign	Het
Ggta1	A	T	2: 35,292,145 (GRCm39)	Y387*	probably null	Het
Gm18856	T	C	13: 14,140,342 (GRCm39)		probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,247,712 (GRCm39)	I552F	probably damaging	Het
Grk5	T	C	19: 61,074,653 (GRCm39)		probably null	Het
Hivep1	T	C	13: 42,313,760 (GRCm39)	V2000A	probably damaging	Het
Ipo5	C	T	14: 121,170,714 (GRCm39)	L466F	probably damaging	Het
Itgb1	G	A	8: 129,458,526 (GRCm39)	S785N	probably damaging	Het
Itpr3	G	A	17: 27,307,987 (GRCm39)	R258K	probably benign	Het
Kcnk12	A	G	17: 88,053,747 (GRCm39)	V305A	probably benign	Het
Klf5	C	T	14: 99,538,986 (GRCm39)	T133I	probably damaging	Het
Lrig2	A	G	3: 104,399,128 (GRCm39)	I178T	probably damaging	Het
Lyrm4	A	T	13: 36,276,907 (GRCm39)	M30K	probably benign	Het
Mpv17	A	G	5: 31,311,063 (GRCm39)	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,478,869 (GRCm39)		probably null	Het
Myof	A	T	19: 37,931,927 (GRCm39)	W967R	probably damaging	Het
Naip1	C	T	13: 100,559,657 (GRCm39)	D1116N	probably benign	Het
Or1e33	T	C	11: 73,738,781 (GRCm39)	T57A	probably benign	Het
Or6c66b	C	A	10: 129,376,561 (GRCm39)	H52N	probably benign	Het
Or8g50	G	A	9: 39,648,492 (GRCm39)	C127Y	probably damaging	Het
Or9k2b	T	C	10: 130,016,261 (GRCm39)	T163A	probably benign	Het
Ovol2	T	C	2: 144,147,710 (GRCm39)	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,202,337 (GRCm39)	S418G	probably benign	Het
Pcdh1	T	C	18: 38,325,233 (GRCm39)	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,607,713 (GRCm39)	Y315F	probably damaging	Het
Pex1	T	C	5: 3,676,085 (GRCm39)	L891P	probably damaging	Het
Potefam1	T	A	2: 111,051,119 (GRCm39)	M226L	probably benign	Het
Ppfia2	G	A	10: 106,666,429 (GRCm39)	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491 (GRCm39)		probably null	Het
Prm3	T	C	16: 10,608,563 (GRCm39)	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,157,887 (GRCm39)	D134G	possibly damaging	Het
Prss42	G	A	9: 110,629,996 (GRCm39)	G250D	probably damaging	Het
Pwwp2b	G	A	7: 138,834,747 (GRCm39)	V63I	probably benign	Het
Rbm17	T	C	2: 11,590,530 (GRCm39)	D375G	possibly damaging	Het
Rims2	T	A	15: 39,155,584 (GRCm39)	D128E	probably benign	Het
Rock2	A	G	12: 17,015,653 (GRCm39)	K850R	probably benign	Het
Rreb1	T	C	13: 38,114,513 (GRCm39)	I624T	probably benign	Het
Rrp36	A	T	17: 46,983,340 (GRCm39)	D91E	probably damaging	Het
Scn7a	C	T	2: 66,527,944 (GRCm39)	D849N	possibly damaging	Het
Sec24a	A	T	11: 51,634,775 (GRCm39)	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,614,921 (GRCm39)	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247 (GRCm38)	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,564,337 (GRCm39)	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,392,972 (GRCm39)	I355F	probably damaging	Het
Spata2	C	T	2: 167,325,439 (GRCm39)	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,505,629 (GRCm39)	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395 (GRCm39)	Y146C	probably damaging	Het
Susd5	A	T	9: 113,897,890 (GRCm39)	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,845,029 (GRCm39)	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,712,651 (GRCm39)	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,863,840 (GRCm39)	E640G	probably damaging	Het
Togaram1	A	G	12: 65,068,342 (GRCm39)	T1782A	probably benign	Het
Trim24	T	C	6: 37,892,214 (GRCm39)	L249P	probably damaging	Het
Ttf1	T	C	2: 28,957,164 (GRCm39)	I478T	probably damaging	Het
Upf2	T	A	2: 6,044,908 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,584,285 (GRCm39)	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,363,262 (GRCm39)	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,104,112 (GRCm39)	V245E	probably damaging	Het
Vwce	T	A	19: 10,630,459 (GRCm39)	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,499,715 (GRCm39)	F155L	probably damaging	Het
Xrra1	A	T	7: 99,547,647 (GRCm39)	I279F	probably benign	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zfp607b	C	T	7: 27,391,948 (GRCm39)	H8Y	possibly damaging	Het
Zfp933	A	T	4: 147,910,476 (GRCm39)	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,060,982 (GRCm39)	L546P	probably benign	Het
Zfp988	C	T	4: 147,415,739 (GRCm39)	R58C	probably benign	Het
Zkscan14	C	T	5: 145,138,464 (GRCm39)	V8I	probably benign	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
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
R8015:Rhbdl1	UTSW	17	26,054,825 (GRCm39)	missense	probably damaging	1.00
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'- TGGAACCCTACCTTACTTGGCTGTG -3'
(R):5'- TAGCAAACAGGCACTGACTGGCAC -3'

Sequencing Primer
(F):5'- CAGTAAAAAGCTGTGTGCCC -3'
(R):5'- TGACTGGCACAAAGGTCC -3'

Posted On

2014-05-09