Mutagenetix > Incidental Mutation

Incidental Mutation 'R5594:Rhbdd3'

437713

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd3

Ensembl Gene

ENSMUSG00000034175

Gene Name

rhomboid domain containing 3

Synonyms

5730411O18Rik

MMRRC Submission

043146-MU

Accession Numbers

Essential gene?

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

Stock #

R5594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5048926-5056093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5055710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 325 (S325P)

Ref Sequence

ENSEMBL: ENSMUSP00000105504 (fasta)

Gene Model

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

AlphaFold

Q8BP97

Predicted Effect

probably benign
Transcript: ENSMUST00000036320
AA Change: S315P

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

SMART Domains

Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
AA Change: S315P

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 damaging
Transcript: ENSMUST00000101610
AA Change: S325P

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

SMART Domains

Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: S325P

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

probably damaging
Transcript: ENSMUST00000109878
AA Change: S325P

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

SMART Domains

Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: S325P

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

noncoding transcript
Transcript: ENSMUST00000129016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132196

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: 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: ENSMUST00000150632

Predicted Effect

probably benign
Transcript: ENSMUST00000134267

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000139742

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

Meta Mutation Damage Score

0.3181

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
4931414P19Rik	A	G	14: 54,822,441 (GRCm39)	Y399H	probably damaging	Het
Abca9	G	T	11: 110,035,688 (GRCm39)	P644Q	probably damaging	Het
Acly	T	C	11: 100,412,946 (GRCm39)		probably null	Het
Adamts14	A	T	10: 61,062,880 (GRCm39)		probably null	Het
Ankdd1a	T	C	9: 65,409,523 (GRCm39)	N471S	probably damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgef28	T	C	13: 98,076,000 (GRCm39)	T1345A	probably benign	Het
Arhgef40	T	A	14: 52,233,614 (GRCm39)	L820H	probably damaging	Het
Atp2b4	A	G	1: 133,658,248 (GRCm39)	V554A	probably damaging	Het
Birc7	G	A	2: 180,575,129 (GRCm39)		probably null	Het
Ccdc80	C	T	16: 44,936,626 (GRCm39)	R684C	probably benign	Het
Cdc25b	C	A	2: 131,033,538 (GRCm39)	P159Q	probably damaging	Het
Cdcp3	T	A	7: 130,841,252 (GRCm39)	D647E	probably benign	Het
Chek2	G	T	5: 111,003,700 (GRCm39)		probably null	Het
Chil6	C	T	3: 106,301,745 (GRCm39)		probably null	Het
Cr2	A	G	1: 194,839,498 (GRCm39)	I643T	probably damaging	Het
Cwf19l2	C	A	9: 3,418,773 (GRCm39)	Q187K	probably benign	Het
Cyth4	A	G	15: 78,491,275 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,058,834 (GRCm39)	T268A	possibly damaging	Het
Dnah17	G	T	11: 117,934,055 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,570,844 (GRCm39)	Y2210C	possibly damaging	Het
Elmod3	G	A	6: 72,571,799 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,092,996 (GRCm39)	T394S	probably benign	Het
Evi5	A	G	5: 107,968,317 (GRCm39)	V182A	possibly damaging	Het
Fbxo30	T	C	10: 11,166,223 (GRCm39)	I315T	probably benign	Het
Fibcd1	T	C	2: 31,728,629 (GRCm39)	N76S	probably damaging	Het
Gcc2	G	T	10: 58,123,064 (GRCm39)	R1190M	probably damaging	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Gm11543	T	A	11: 94,719,380 (GRCm39)		noncoding transcript	Het
Hhip	G	T	8: 80,723,492 (GRCm39)	D387E	probably damaging	Het
Hif1a	T	A	12: 73,984,566 (GRCm39)	Y46*	probably null	Het
Hivep3	G	T	4: 119,980,245 (GRCm39)		probably null	Het
Kif13a	T	A	13: 46,906,338 (GRCm39)	E535V	probably damaging	Het
Lrch3	T	C	16: 32,734,554 (GRCm39)	Y15H	probably damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Lyst	T	A	13: 13,933,982 (GRCm39)	V3560E	probably benign	Het
Megf11	T	C	9: 64,593,755 (GRCm39)	F613L	probably damaging	Het
Misp	G	A	10: 79,662,977 (GRCm39)	V465M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	T	A	19: 11,455,537 (GRCm39)	D115E	probably benign	Het
Msh6	A	G	17: 88,293,497 (GRCm39)	T751A	probably benign	Het
Ntrk3	T	A	7: 78,101,647 (GRCm39)	T429S	probably benign	Het
Oplah	A	C	15: 76,180,837 (GRCm39)	*1289G	probably null	Het
Or14j7	T	A	17: 38,234,502 (GRCm39)	M15K	probably benign	Het
Or7e166	T	C	9: 19,624,302 (GRCm39)	Y60H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhga6	A	T	18: 37,841,581 (GRCm39)	T434S	probably benign	Het
Pign	A	G	1: 105,574,594 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,937,996 (GRCm39)	I51F	probably benign	Het
Prrc2c	C	A	1: 162,526,600 (GRCm39)	V204F	unknown	Het
Rit1	T	A	3: 88,636,444 (GRCm39)	L116Q	probably damaging	Het
Rpl22	T	A	4: 152,410,259 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,108,560 (GRCm39)	E1588G	possibly damaging	Het
Sardh	A	G	2: 27,110,735 (GRCm39)	F577S	probably damaging	Het
Slc12a7	T	A	13: 73,933,258 (GRCm39)	D105E	probably benign	Het
Slc22a23	T	A	13: 34,489,240 (GRCm39)	D215V	probably damaging	Het
Slc4a8	C	A	15: 100,693,768 (GRCm39)	P438T	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Stk19	C	T	17: 35,039,538 (GRCm39)		probably benign	Het
Stx5a	T	C	19: 8,725,829 (GRCm39)	I143T	probably damaging	Het
Tep1	T	C	14: 51,067,339 (GRCm39)	H2232R	possibly damaging	Het
Trmt9b	A	G	8: 36,979,452 (GRCm39)	T352A	probably benign	Het
Ttc21b	A	G	2: 66,066,579 (GRCm39)	I358T	probably benign	Het
Tuba8	A	G	6: 121,202,863 (GRCm39)	D392G	possibly damaging	Het
Vmn1r1	G	A	1: 181,984,972 (GRCm39)	P231L	probably damaging	Het
Zfp330	A	G	8: 83,493,941 (GRCm39)	W107R	probably damaging	Het
Zfp715	T	A	7: 42,949,116 (GRCm39)	Q281H	possibly damaging	Het
Zfp9	T	C	6: 118,442,000 (GRCm39)	T221A	probably damaging	Het
Zgpat	T	C	2: 181,007,420 (GRCm39)		probably benign	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
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
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'- CAGCTGACATGGAAGAACTCG -3'
(R):5'- ATGTTGGGGCCTAGTCCTAC -3'

Sequencing Primer
(F):5'- TCGGAGAGGGGCTTGGAC -3'
(R):5'- ACTAGGGCCTCAGTGTCCACTAG -3'

Posted On

2016-10-26