Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Rhbdl1'

382712

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl1

Ensembl Gene

ENSMUSG00000025735

Gene Name

rhomboid like 1

Synonyms

Rhbdl

MMRRC Submission

042571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26053439-26056101 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 26054002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 289 (W289*)

Ref Sequence

ENSEMBL: ENSMUSP00000139046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000043897] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000183929] [ENSMUST00000133595] [ENSMUST00000184865]

AlphaFold

Q8VC82

Predicted Effect

probably null
Transcript: ENSMUST00000026831
AA Change: W293*

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
AA Change: W293*

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

noncoding transcript
Transcript: ENSMUST00000123560

Predicted Effect

probably benign
Transcript: ENSMUST00000123582

SMART Domains

Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
low complexity region	158	172	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123692

Predicted Effect

probably null
Transcript: ENSMUST00000183929
AA Change: W289*

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: W289*

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: ENSMUST00000143296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144589

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

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: ENSMUST00000152434

SMART Domains

Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184865

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,387 (GRCm39)	Y113*	probably null	Het
Abcc2	C	T	19: 43,789,074 (GRCm39)	T243M	probably benign	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,628,193 (GRCm39)	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,433,998 (GRCm39)	S142R	probably damaging	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Alg6	G	A	4: 99,638,965 (GRCm39)		probably null	Het
Aoc3	T	A	11: 101,221,800 (GRCm39)	L12Q	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Atp2b2	T	A	6: 113,736,122 (GRCm39)	I986F	probably damaging	Het
Axin1	G	T	17: 26,413,045 (GRCm39)	Q779H	probably benign	Het
Axin1	A	T	17: 26,413,044 (GRCm39)	Q779L	probably benign	Het
Bltp3a	T	C	17: 28,103,000 (GRCm39)	S345P	probably damaging	Het
Btaf1	T	C	19: 36,963,979 (GRCm39)	V850A	probably benign	Het
Camsap2	A	G	1: 136,232,124 (GRCm39)	V157A	probably damaging	Het
Ccdc191	T	C	16: 43,763,868 (GRCm39)	V443A	probably benign	Het
Cd1d1	T	A	3: 86,905,958 (GRCm39)	M106L	probably benign	Het
Cenpe	A	G	3: 134,940,637 (GRCm39)	D632G	probably damaging	Het
Cnih2	T	A	19: 5,143,957 (GRCm39)		probably null	Het
Crnkl1	G	T	2: 145,765,796 (GRCm39)	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,055,990 (GRCm39)	S259T	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	G	T	11: 68,918,152 (GRCm39)	G425C	probably damaging	Het
Dctn4	T	A	18: 60,689,464 (GRCm39)	I445N	probably benign	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Elp6	C	T	9: 110,143,141 (GRCm39)	P118L	probably damaging	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Ep400	A	G	5: 110,846,678 (GRCm39)	F1480L	unknown	Het
Ep400	T	C	5: 110,868,622 (GRCm39)	E934G	unknown	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Epha5	A	T	5: 84,232,683 (GRCm39)	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797 (GRCm39)	M221K	probably benign	Het
Esp36	T	C	17: 38,728,177 (GRCm39)	T35A	possibly damaging	Het
Flvcr1	T	C	1: 190,757,692 (GRCm39)	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,679,178 (GRCm39)	Y299*	probably null	Het
Gabrg1	C	A	5: 70,931,754 (GRCm39)	V330L	possibly damaging	Het
Gata4	A	T	14: 63,441,138 (GRCm39)	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,366,454 (GRCm39)	N97I	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Golim4	T	C	3: 75,785,950 (GRCm39)		probably null	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,293,202 (GRCm39)	L247S	probably damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,014,068 (GRCm39)	K40R	probably benign	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Ints1	C	A	5: 139,738,566 (GRCm39)	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,328,386 (GRCm39)	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Kpna2	C	T	11: 106,882,295 (GRCm39)	G204S	probably damaging	Het
Ktn1	G	A	14: 47,907,756 (GRCm39)		probably null	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lmx1a	G	T	1: 167,619,123 (GRCm39)	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,602,043 (GRCm39)	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,628,090 (GRCm39)		probably null	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Meltf	T	C	16: 31,713,532 (GRCm39)	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,531,293 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,112,876 (GRCm39)	T79A	probably benign	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Ncoa3	T	A	2: 165,889,820 (GRCm39)	D68E	probably damaging	Het
Nt5m	T	A	11: 59,765,381 (GRCm39)	Y136*	probably null	Het
Or10h5	C	T	17: 33,434,728 (GRCm39)	A200T	probably benign	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or51m1	A	T	7: 103,578,944 (GRCm39)	I305F	probably benign	Het
Or5p66	A	C	7: 107,885,818 (GRCm39)	C172G	probably damaging	Het
Or7g21	G	A	9: 19,032,797 (GRCm39)	C179Y	probably damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,365,708 (GRCm39)	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,254,086 (GRCm39)	S361T	possibly damaging	Het
Prim1	A	T	10: 127,851,131 (GRCm39)	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Retsat	T	A	6: 72,578,609 (GRCm39)	M107K	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rprd2	T	A	3: 95,673,661 (GRCm39)	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,530,924 (GRCm39)	T936A	probably damaging	Het
Scgb1b10	A	G	7: 31,800,609 (GRCm39)	Q66R	possibly damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Shox2	T	C	3: 66,881,008 (GRCm39)		probably benign	Het
Skp1	C	A	11: 52,134,458 (GRCm39)	T63N	probably benign	Het
Slc10a6	C	T	5: 103,754,470 (GRCm39)	V354M	probably benign	Het
Slc35f3	T	C	8: 127,116,020 (GRCm39)		probably null	Het
Slc8b1	T	A	5: 120,663,740 (GRCm39)	L320*	probably null	Het
Snap29	T	A	16: 17,237,132 (GRCm39)	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,894,299 (GRCm39)	I1837T	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tacr3	A	G	3: 134,638,033 (GRCm39)	T397A	probably benign	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmprss4	A	G	9: 45,084,706 (GRCm39)	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,698,387 (GRCm39)	H45R	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbed6	T	C	1: 133,585,832 (GRCm39)	T502A	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly 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
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'- GTCATAGGCAAAGACGTTCCAG -3'
(R):5'- ATGCTTCACAGCCTGTCTGC -3'

Sequencing Primer
(F):5'- GCAAAGACGTTCCAGAAGATG -3'
(R):5'- TGCCCCCATCAGAACTGG -3'

Posted On

2016-04-27