Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Rhbdf2'

607201

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf2

Ensembl Gene

ENSMUSG00000020806

Gene Name

rhomboid 5 homolog 2

Synonyms

iRhom2, Rhbdl6, 4732465I17Rik

MMRRC Submission

Accession Numbers

VEGA: OTTMUST00000008766; MGI: 2442473

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116598165-116627019 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 116602240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 393 (C393*)

Ref Sequence

ENSEMBL: ENSMUSP00000099317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]

AlphaFold

Q80WQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000021160

SMART Domains

Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
PDB:1KUY\|A	3	104	1e-50	PDB
SCOP:d1cjwa_	28	103	4e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103028
AA Change: C393*

SMART Domains

Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: C393*

Domain	Start	End	E-Value	Type
Pfam:Rhomboid_SP	98	306	1.8e-98	PFAM
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:Rhomboid	619	763	4.6e-31	PFAM
transmembrane domain	775	797	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103029
AA Change: C393*

SMART Domains

Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: C393*

Domain	Start	End	E-Value	Type
Pfam:Rhomboid_SP	98	304	4.7e-97	PFAM
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:Rhomboid	619	763	8.1e-31	PFAM
transmembrane domain	775	797	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123507

SMART Domains

Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
PDB:1IB1\|H	3	53	6e-16	PDB
SCOP:d1cjwa_	28	59	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153476

SMART Domains

Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	82	172	4.1e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [provided by MGI curators]

Allele List at MGI

All alleles(34) : Targeted(4) Gene trapped(30)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	Het

Other mutations in Rhbdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rhbdf2	APN	11	116601751	missense	possibly damaging	0.80
IGL01464:Rhbdf2	APN	11	116600908	missense	probably benign	0.18
IGL02060:Rhbdf2	APN	11	116600626	missense	probably damaging	1.00
IGL02211:Rhbdf2	APN	11	116600435	missense	possibly damaging	0.49
Lostnf	UTSW	11	116600161	missense	probably damaging	1.00
Lostnf2	UTSW	11	116600191	missense	possibly damaging	0.94
sinecure	UTSW	11	116602260	missense	probably damaging	0.99
Trapezoid	UTSW	11	116601148	missense	probably damaging	0.96
R0131:Rhbdf2	UTSW	11	116605344	missense	probably damaging	1.00
R0399:Rhbdf2	UTSW	11	116603992	missense	probably benign	0.00
R0739:Rhbdf2	UTSW	11	116600161	missense	probably damaging	1.00
R1756:Rhbdf2	UTSW	11	116607266	missense	probably benign
R1839:Rhbdf2	UTSW	11	116600191	missense	possibly damaging	0.94
R2029:Rhbdf2	UTSW	11	116601148	missense	probably damaging	0.96
R3833:Rhbdf2	UTSW	11	116604424	missense	probably damaging	1.00
R4330:Rhbdf2	UTSW	11	116601956	missense	probably benign
R4331:Rhbdf2	UTSW	11	116602296	missense	probably damaging	1.00
R4872:Rhbdf2	UTSW	11	116601945	missense	probably benign	0.04
R5530:Rhbdf2	UTSW	11	116600662	missense	probably damaging	1.00
R5625:Rhbdf2	UTSW	11	116605377	missense	probably damaging	0.99
R5841:Rhbdf2	UTSW	11	116602354	unclassified	probably benign
R6579:Rhbdf2	UTSW	11	116604463	missense	probably benign	0.02
R7047:Rhbdf2	UTSW	11	116603651	critical splice donor site	probably null
R7403:Rhbdf2	UTSW	11	116600419	missense	probably damaging	1.00
R7743:Rhbdf2	UTSW	11	116601601	missense	probably benign	0.04
R7743:Rhbdf2	UTSW	11	116603949	missense	probably benign
R8055:Rhbdf2	UTSW	11	116607365	missense	probably benign	0.01
R8700:Rhbdf2	UTSW	11	116607404	start gained	probably benign
R9052:Rhbdf2	UTSW	11	116603932	missense	probably benign	0.00
X0027:Rhbdf2	UTSW	11	116599093	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGTGGCATTAGAGGAGCCAG -3'
(R):5'- CAAGTTTCTGTGGGGAAGGC -3'

Sequencing Primer
(F):5'- CATTAGAGGAGCCAGAGCCC -3'
(R):5'- CTGAGCTGGGGGAATGC -3'

Posted On

2019-12-20