Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Rhbdd3'

160788

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd3

Ensembl Gene

ENSMUSG00000034175

Gene Name

rhomboid domain containing 3

Synonyms

5730411O18Rik

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

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

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5048926-5056093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5053332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 44 (L44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105504 (fasta)

Gene Model

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

AlphaFold

Q8BP97

Predicted Effect

probably damaging
Transcript: ENSMUST00000036320
AA Change: L44Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
AA Change: L44Q

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 damaging
Transcript: ENSMUST00000101610
AA Change: L44Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: L44Q

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

unknown
Transcript: ENSMUST00000134267
AA Change: L44Q

Predicted Effect

probably damaging
Transcript: ENSMUST00000109878
AA Change: L44Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: L44Q

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 damaging
Transcript: ENSMUST00000148761
AA Change: L44Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120264
Gene: ENSMUSG00000034175
AA Change: L44Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129016

Predicted Effect

probably benign
Transcript: ENSMUST00000150632

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: 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: ENSMUST00000139742

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: 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: 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	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
IGL02376:Rhbdd3	APN	11	5,053,192 (GRCm39)	unclassified	probably benign
R1387:Rhbdd3	UTSW	11	5,054,121 (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

Predicted Primers

PCR Primer
(F):5'- TACAGCCTCAGGACCACCTTTGAC -3'
(R):5'- AGGGATGTGATCAGCACTCCTACC -3'

Sequencing Primer
(F):5'- GGACCACCTTTGACTACCATC -3'
(R):5'- GATCAGCACTCCTACCCATGC -3'

Posted On

2014-03-14