Mutagenetix > Incidental Mutations

Incidental Mutation 'R4809:Rhbdd3'

370920

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd3

Ensembl Gene

ENSMUSG00000034175

Gene Name

rhomboid domain containing 3

Synonyms

MMRRC Submission

042428-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5098926-5106093 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5105949 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 377 (A377D)

Ref Sequence

ENSEMBL: ENSMUSP00000105504 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000036320
AA Change: A367D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044703
Gene: ENSMUSG00000034175
AA Change: A367D

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: A377D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099131
Gene: ENSMUSG00000034175
AA Change: A377D

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: A377D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105504
Gene: ENSMUSG00000034175
AA Change: A377D

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: ENSMUST00000134267

Predicted Effect

probably benign
Transcript: ENSMUST00000139742

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: ENSMUST00000150632

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: 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

0.0795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771	M1R	probably null	Het
Abl1	T	C	2: 31,800,242	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479	W200*	probably null	Het
AI661453	C	A	17: 47,467,187		probably benign	Het
Aldh1l2	A	G	10: 83,506,632	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214		probably benign	Het
Arhgap42	A	G	9: 9,180,117	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744		probably null	Het
Cabp4	T	C	19: 4,139,291	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570		probably benign	Het
Chfr	C	T	5: 110,158,834	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250	T113I	probably benign	Het
Col12a1	T	A	9: 79,693,567	Q745L	probably benign	Het
Col20a1	T	C	2: 180,998,661	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842		probably benign	Het
Cts6	A	T	13: 61,202,181	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014		probably null	Het
Dnmt3a	A	T	12: 3,900,352	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621	T765S	possibly damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Fam189a1	G	A	7: 64,776,740	T159I	probably damaging	Het
Fam227b	T	A	2: 126,116,125	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 109,143,390	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gjd2	C	T	2: 114,011,541	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823	R40W	unknown	Het
Kif1c	C	T	11: 70,726,357	A839V	probably benign	Het
Krt31	G	A	11: 100,049,922	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526	Y163C	probably damaging	Het
Mars	G	T	10: 127,300,215	T535K	probably damaging	Het
Mdc1	T	C	17: 35,849,101		probably null	Het
Micu1	C	T	10: 59,740,822	H167Y	probably benign	Het
Minos1	C	G	4: 139,130,957	W10S	probably damaging	Het
Mrgprb1	C	T	7: 48,447,991	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160		probably benign	Het
Olfr1085	T	A	2: 86,657,685	M258L	possibly damaging	Het
Olfr1294	C	T	2: 111,537,611	C226Y	probably benign	Het
Olfr46	A	G	7: 140,611,074	K295E	probably damaging	Het
Olfr598	T	A	7: 103,328,523	Y12*	probably null	Het
Pex16	T	C	2: 92,376,638	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974		probably benign	Het
Rcc2	G	A	4: 140,717,042	R348Q	probably damaging	Het
Rpl7	T	G	1: 16,101,965		probably benign	Het
Scn11a	G	T	9: 119,819,870	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120		probably null	Het
Stim2	T	C	5: 54,110,613	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676		probably null	Het
Usp36	A	C	11: 118,263,070	L840R	probably damaging	Het
Usp50	C	A	2: 126,777,853		probably benign	Het
Vangl2	A	G	1: 172,009,663	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292	E112*	probably null	Het

Other mutations in Rhbdd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Rhbdd3	APN	11	5105424	unclassified	probably benign
IGL02376:Rhbdd3	APN	11	5103192	unclassified	probably benign
R1387:Rhbdd3	UTSW	11	5104121	missense	probably damaging	1.00
R1438:Rhbdd3	UTSW	11	5103332	missense	probably damaging	1.00
R4196:Rhbdd3	UTSW	11	5099460	unclassified	probably benign
R4278:Rhbdd3	UTSW	11	5105329	missense	probably benign	0.01
R4554:Rhbdd3	UTSW	11	5105946	missense	probably benign	0.03
R5594:Rhbdd3	UTSW	11	5105710	missense	probably damaging	1.00
R5687:Rhbdd3	UTSW	11	5105707	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTAAGGTAAGGCAGGGTGG -3'
(R):5'- GGAGCCAGACATGACAACTG -3'

Sequencing Primer
(F):5'- TATGGGAGCCATGCTGTCC -3'
(R):5'- CTGACACTCAGGAGACCAGGTTG -3'

Posted On

2016-02-04