Mutagenetix > Incidental Mutation

Incidental Mutation 'R8939:Rhbdf1'

680858

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Dist1, Egfr-rs

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32209585-32222300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32210093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 136 (A136V)

Ref Sequence

ENSEMBL: ENSMUSP00000117471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043] [ENSMUST00000150381]

AlphaFold

Q6PIX5

Predicted Effect

probably benign
Transcript: ENSMUST00000020524
AA Change: A761V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: A761V

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	308	1.6e-116	PFAM
Pfam:Rhomboid	648	792	2.1e-32	PFAM
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039601

SMART Domains

Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	123	4e-63	PDB
Blast:UBQ	32	119	1e-30	BLAST
SCOP:d1euvb_	32	121	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121182

SMART Domains

Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	83	4e-28	PDB
Blast:UBQ	32	83	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132578

SMART Domains

Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	158	7.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143988
AA Change: A136V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: A136V

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	52	167	1.6e-24	PFAM
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146179

SMART Domains

Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	155	7.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149043

SMART Domains

Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	96	1e-40	PDB
Blast:UBQ	32	96	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150381

SMART Domains

Protein: ENSMUSP00000118769
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,385,061	A32T	probably damaging	Het
4930578I06Rik	A	G	14: 63,987,713	V12A	probably benign	Het
Abcc12	A	G	8: 86,517,318	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,679,251	T473A	probably damaging	Het
Acsm1	A	T	7: 119,640,645	T271S	probably benign	Het
Adh6b	T	C	3: 138,349,636	I49T	probably benign	Het
Aff4	A	T	11: 53,372,404	T84S	probably benign	Het
Angptl7	G	A	4: 148,496,499	R280*	probably null	Het
Bhlhe23	T	A	2: 180,776,306	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,086,806		probably null	Het
Cfap45	C	G	1: 172,545,267	R510G	probably damaging	Het
Chl1	A	G	6: 103,665,907	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,406,842	T336S	probably benign	Het
Clpx	A	G	9: 65,324,237	K535E	probably benign	Het
Crybg3	T	C	16: 59,556,149	M1581V	probably benign	Het
Ddx4	A	T	13: 112,622,289	I246K	probably benign	Het
F7	G	T	8: 13,028,724	G52C	probably damaging	Het
Fam186b	T	C	15: 99,279,342	Q701R	probably benign	Het
Fign	T	A	2: 63,979,112	M605L	probably benign	Het
Fpr2	T	C	17: 17,893,621	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gria2	A	T	3: 80,710,863		probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Gsto2	T	C	19: 47,884,764		probably null	Het
Hsd3b1	A	G	3: 98,852,983	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,567,463		probably null	Het
Ighv1-80	C	T	12: 115,912,493	G68R	probably damaging	Het
Il10ra	A	G	9: 45,266,504	V69A	unknown	Het
Klhdc1	C	T	12: 69,253,763	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,665,403	I166T	unknown	Het
Lce1h	A	T	3: 92,763,669	C59S	unknown	Het
Magi3	T	C	3: 104,089,432		probably benign	Het
Map3k1	G	T	13: 111,756,303	S806*	probably null	Het
Map3k6	T	A	4: 133,252,643		probably benign	Het
Mgam	G	A	6: 40,763,203		probably null	Het
Mtx1	A	G	3: 89,212,726	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,793,354	N356Y	probably damaging	Het
Myo16	T	C	8: 10,474,679	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,255,464	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,266,020	V28I	probably benign	Het
Olfr1484	A	C	19: 13,585,496	N64T	probably damaging	Het
Olfr63	A	G	17: 33,269,615	K297R	probably damaging	Het
Pcmtd2	T	C	2: 181,855,070		probably benign	Het
Pcnx3	A	G	19: 5,680,319	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,521,319	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 65,803,931	V70A	probably damaging	Het
Psd2	G	A	18: 35,988,239	V421M	probably damaging	Het
Rbak	C	T	5: 143,174,270	E343K	possibly damaging	Het
Rusc1	T	A	3: 89,088,030	E231D	probably benign	Het
Rxfp1	T	C	3: 79,644,924	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,898,907	E88G	probably benign	Het
Sec23b	T	C	2: 144,569,217		probably null	Het
Sgcb	A	T	5: 73,644,318	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,414,433		probably benign	Het
Slc25a48	C	T	13: 56,463,706	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,163,776	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,726,914	S76L	probably damaging	Het
Spen	T	C	4: 141,475,658	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,807,629	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,396,308	L280M	probably damaging	Het
Stard10	A	G	7: 101,342,640	Y117C	probably damaging	Het
Stard13	A	T	5: 151,045,109		probably null	Het
Stim2	G	T	5: 54,105,331	R305L	possibly damaging	Het
Syt14	G	A	1: 192,930,588	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,545,621		probably benign	Het
Ttn	T	C	2: 76,745,351	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,565,716	T493A	probably benign	Het
Ugt2b34	A	G	5: 86,891,299	L501P	probably damaging	Het
Umod	T	C	7: 119,469,477	I449V	probably damaging	Het
Vmn2r51	C	A	7: 10,100,026	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,516,144	T2910P	probably benign	Het
Zscan20	A	G	4: 128,604,522	S28P	probably benign	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32213484	missense	probably benign
IGL02183:Rhbdf1	APN	11	32210543	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32213293	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32213293	missense	possibly damaging	0.92
BB005:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
FR4589:Rhbdf1	UTSW	11	32214391	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32210498	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32210042	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32210875	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32215053	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32213432	splice site	probably null
R1952:Rhbdf1	UTSW	11	32214277	nonsense	probably null
R2017:Rhbdf1	UTSW	11	32210471	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32214088	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32209985	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32216236	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32213369	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32214517	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32210222	splice site	probably null
R5728:Rhbdf1	UTSW	11	32209901	splice site	probably null
R5925:Rhbdf1	UTSW	11	32212906	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32209847	missense	probably benign	0.00
R6083:Rhbdf1	UTSW	11	32210066	missense	probably damaging	1.00
R6088:Rhbdf1	UTSW	11	32212007	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32212915	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32215652	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32214042	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32209970	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32212903	missense	probably benign	0.01
R7928:Rhbdf1	UTSW	11	32209898	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32216258	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32210523	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32214563	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32210162	missense	probably damaging	0.98
R9040:Rhbdf1	UTSW	11	32213063	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32210754	missense	probably benign	0.00
R9509:Rhbdf1	UTSW	11	32215055	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32213101	missense	probably benign	0.00
V3553:Rhbdf1	UTSW	11	32211583	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32215125	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGTCCGTGAAAGGGATGC -3'
(R):5'- GCAGCCTCAGTAGCTTAGAG -3'

Sequencing Primer
(F):5'- ATTCACAGCGCACCGGGTAG -3'
(R):5'- GCTTAGAGCTTCCAACCCC -3'

Posted On

2021-08-31