Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Rhbdd3'

291140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhbdd3

Ensembl Gene

ENSMUSG00000034175

Gene Name

rhomboid domain containing 3

Synonyms

5730411O18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

5048926-5056093 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 5053192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036320] [ENSMUST00000062821] [ENSMUST00000063232] [ENSMUST00000073308] [ENSMUST00000079949] [ENSMUST00000093365] [ENSMUST00000101610] [ENSMUST00000148761] [ENSMUST00000139742] [ENSMUST00000150632] [ENSMUST00000109878] [ENSMUST00000134267] [ENSMUST00000102930] [ENSMUST00000163299]

AlphaFold

Q8BP97

Predicted Effect

probably benign
Transcript: ENSMUST00000036320

SMART Domains

Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	185	2.2e-7	PFAM
SCOP:d1ifya_	308	351	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062821

SMART Domains

Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	34	101	8.7e-18	PFAM
low complexity region	200	211	N/A	INTRINSIC
low complexity region	220	267	N/A	INTRINSIC
Pfam:Collagen	282	342	5e-10	PFAM
Pfam:Collagen	312	377	4.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063232

SMART Domains

Protein: ENSMUSP00000066827
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
low complexity region	51	71	N/A	INTRINSIC
low complexity region	78	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073308

SMART Domains

Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	5.91e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	5.91e-6	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	296	315	N/A	INTRINSIC
RRM	324	405	8.38e-17	SMART
low complexity region	416	475	N/A	INTRINSIC
ZnF_RBZ	482	508	6.22e-7	SMART
low complexity region	512	586	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079949

SMART Domains

Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	2.98e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	2.98e-6	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	300	331	N/A	INTRINSIC
low complexity region	335	356	N/A	INTRINSIC
RRM	361	442	8.38e-17	SMART
low complexity region	453	512	N/A	INTRINSIC
ZnF_RBZ	519	545	6.22e-7	SMART
low complexity region	549	623	N/A	INTRINSIC
low complexity region	629	639	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093365

SMART Domains

Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	2.29e-5	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	91	121	N/A	INTRINSIC
internal_repeat_1	155	170	2.29e-5	PROSPERO
low complexity region	187	211	N/A	INTRINSIC
low complexity region	213	266	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101610

SMART Domains

Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	2.5e-7	PFAM
Pfam:UBA	323	358	3.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137370

Predicted Effect

probably benign
Transcript: ENSMUST00000148761

SMART Domains

Protein: ENSMUSP00000120264
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	3.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139742

Predicted Effect

probably benign
Transcript: ENSMUST00000150632

Predicted Effect

probably benign
Transcript: ENSMUST00000109878

SMART Domains

Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Rhomboid	44	187	2e-7	PFAM
SCOP:d1ifya_	318	361	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134267

Predicted Effect

probably benign
Transcript: ENSMUST00000153308

SMART Domains

Protein: ENSMUSP00000125605
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	49	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132328

SMART Domains

Protein: ENSMUSP00000117779
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
low complexity region	1	44	N/A	INTRINSIC
Pfam:Collagen	59	113	4.5e-10	PFAM
Pfam:Collagen	89	152	2e-13	PFAM
low complexity region	154	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102930

SMART Domains

Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
internal_repeat_1	26	41	3.23e-6	PROSPERO
low complexity region	51	71	N/A	INTRINSIC
low complexity region	97	127	N/A	INTRINSIC
internal_repeat_1	161	176	3.23e-6	PROSPERO
low complexity region	193	217	N/A	INTRINSIC
low complexity region	219	272	N/A	INTRINSIC
low complexity region	306	337	N/A	INTRINSIC
low complexity region	341	362	N/A	INTRINSIC
RRM	367	448	8.38e-17	SMART
low complexity region	459	518	N/A	INTRINSIC
ZnF_RBZ	525	551	6.22e-7	SMART
low complexity region	555	629	N/A	INTRINSIC
low complexity region	635	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151906

SMART Domains

Protein: ENSMUSP00000124014
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
Pfam:Collagen	2	68	8.4e-14	PFAM
low complexity region	72	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163299

SMART Domains

Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:EMI	33	101	7.3e-24	PFAM
low complexity region	198	209	N/A	INTRINSIC
low complexity region	218	265	N/A	INTRINSIC
Pfam:Collagen	280	340	5.1e-10	PFAM
Pfam:Collagen	310	375	4.3e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered stimulated NK cell activation and acute inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Or4c52	A	G	2: 89,845,804 (GRCm39)	I177V	probably benign	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	probably damaging	Het

Other mutations in Rhbdd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Rhbdd3	APN	11	5,055,424 (GRCm39)	unclassified	probably benign
R1387:Rhbdd3	UTSW	11	5,054,121 (GRCm39)	missense	probably damaging	1.00
R1438:Rhbdd3	UTSW	11	5,053,332 (GRCm39)	missense	probably damaging	1.00
R4196:Rhbdd3	UTSW	11	5,049,460 (GRCm39)	unclassified	probably benign
R4278:Rhbdd3	UTSW	11	5,055,329 (GRCm39)	missense	probably benign	0.01
R4554:Rhbdd3	UTSW	11	5,055,946 (GRCm39)	missense	probably benign	0.03
R4809:Rhbdd3	UTSW	11	5,055,949 (GRCm39)	missense	probably damaging	0.99
R5594:Rhbdd3	UTSW	11	5,055,710 (GRCm39)	missense	probably damaging	1.00
R5687:Rhbdd3	UTSW	11	5,055,707 (GRCm39)	missense	probably damaging	1.00
R7863:Rhbdd3	UTSW	11	5,053,236 (GRCm39)	missense	probably benign	0.23
R7876:Rhbdd3	UTSW	11	5,055,832 (GRCm39)	missense	possibly damaging	0.91
R8138:Rhbdd3	UTSW	11	5,054,303 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16