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, Egfr-rs, Dist1

MMRRC Submission

068712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R8939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32159585-32172300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32160093 bp (GRCm39)

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
4930578I06Rik	A	G	14: 64,225,162 (GRCm39)	V12A	probably benign	Het
Abcc12	A	G	8: 87,243,947 (GRCm39)	Y1069H	probably damaging	Het
Abcc9	T	C	6: 142,624,977 (GRCm39)	T473A	probably damaging	Het
Acsm1	A	T	7: 119,239,868 (GRCm39)	T271S	probably benign	Het
Adh6b	T	C	3: 138,055,397 (GRCm39)	I49T	probably benign	Het
Aff4	A	T	11: 53,263,231 (GRCm39)	T84S	probably benign	Het
Angptl7	G	A	4: 148,580,956 (GRCm39)	R280*	probably null	Het
Bhlhe23	T	A	2: 180,418,099 (GRCm39)	K146N	probably damaging	Het
Cacna1s	T	C	1: 136,014,544 (GRCm39)		probably null	Het
Cfap45	C	G	1: 172,372,834 (GRCm39)	R510G	probably damaging	Het
Chl1	A	G	6: 103,642,868 (GRCm39)	Y202C	probably damaging	Het
Chrna6	T	A	8: 27,896,870 (GRCm39)	T336S	probably benign	Het
Clpx	A	G	9: 65,231,519 (GRCm39)	K535E	probably benign	Het
Crybg3	T	C	16: 59,376,512 (GRCm39)	M1581V	probably benign	Het
Ddx4	A	T	13: 112,758,823 (GRCm39)	I246K	probably benign	Het
F7	G	T	8: 13,078,724 (GRCm39)	G52C	probably damaging	Het
Fam186b	T	C	15: 99,177,223 (GRCm39)	Q701R	probably benign	Het
Fign	T	A	2: 63,809,456 (GRCm39)	M605L	probably benign	Het
Fpr2	T	C	17: 18,113,883 (GRCm39)	F293S	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gria2	A	T	3: 80,618,170 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsto2	T	C	19: 47,873,203 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,299 (GRCm39)	W231R	probably damaging	Het
Igflr1	CAGAG	CAG	7: 30,266,888 (GRCm39)		probably null	Het
Ighv1-80	C	T	12: 115,876,113 (GRCm39)	G68R	probably damaging	Het
Il10ra	A	G	9: 45,177,802 (GRCm39)	V69A	unknown	Het
Klhdc1	C	T	12: 69,300,537 (GRCm39)	A159V	probably damaging	Het
Krtap4-6	A	G	11: 99,556,229 (GRCm39)	I166T	unknown	Het
Lce1h	A	T	3: 92,670,976 (GRCm39)	C59S	unknown	Het
Magi3	T	C	3: 103,996,748 (GRCm39)		probably benign	Het
Map3k1	G	T	13: 111,892,837 (GRCm39)	S806*	probably null	Het
Map3k6	T	A	4: 132,979,954 (GRCm39)		probably benign	Het
Mgam	G	A	6: 40,740,137 (GRCm39)		probably null	Het
Mtx1	A	G	3: 89,120,033 (GRCm39)	V207A	probably damaging	Het
Muc5ac	A	T	7: 141,347,091 (GRCm39)	N356Y	probably damaging	Het
Myo16	T	C	8: 10,524,679 (GRCm39)	F810S	probably damaging	Het
Nlrx1	A	G	9: 44,166,761 (GRCm39)	L774P	probably damaging	Het
Nr1i2	C	T	16: 38,086,382 (GRCm39)	V28I	probably benign	Het
Or10h28	A	G	17: 33,488,589 (GRCm39)	K297R	probably damaging	Het
Or5b122	A	C	19: 13,562,860 (GRCm39)	N64T	probably damaging	Het
Pcmtd2	T	C	2: 181,496,863 (GRCm39)		probably benign	Het
Pcnx3	A	G	19: 5,730,347 (GRCm39)	L102P	probably damaging	Het
Pnpla6	A	G	8: 3,571,319 (GRCm39)	E114G	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,926 (GRCm39)	V70A	probably damaging	Het
Psd2	G	A	18: 36,121,292 (GRCm39)	V421M	probably damaging	Het
Qng1	C	T	13: 58,532,875 (GRCm39)	A32T	probably damaging	Het
Rbak	C	T	5: 143,160,025 (GRCm39)	E343K	possibly damaging	Het
Rusc1	T	A	3: 88,995,337 (GRCm39)	E231D	probably benign	Het
Rxfp1	T	C	3: 79,552,231 (GRCm39)	E690G	probably damaging	Het
Sdr9c7	A	G	10: 127,734,776 (GRCm39)	E88G	probably benign	Het
Sec23b	T	C	2: 144,411,137 (GRCm39)		probably null	Het
Sgcb	A	T	5: 73,801,661 (GRCm39)	I68N	probably damaging	Het
Sh3pxd2b	T	C	11: 32,364,433 (GRCm39)		probably benign	Het
Slc25a48	C	T	13: 56,611,519 (GRCm39)	P209S	probably damaging	Het
Slc9a3	C	A	13: 74,311,895 (GRCm39)	H614Q	possibly damaging	Het
Slurp1	G	A	15: 74,598,763 (GRCm39)	S76L	probably damaging	Het
Spen	T	C	4: 141,202,969 (GRCm39)	E1886G	possibly damaging	Het
Sqor	C	T	2: 122,649,549 (GRCm39)	P151S	possibly damaging	Het
Sstr4	C	A	2: 148,238,228 (GRCm39)	L280M	probably damaging	Het
Stard10	A	G	7: 100,991,847 (GRCm39)	Y117C	probably damaging	Het
Stard13	A	T	5: 150,968,574 (GRCm39)		probably null	Het
Stim2	G	T	5: 54,262,673 (GRCm39)	R305L	possibly damaging	Het
Syt14	G	A	1: 192,612,896 (GRCm39)	R635C	probably damaging	Het
Tmcc3	A	T	10: 94,381,483 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,575,695 (GRCm39)	N23320S	possibly damaging	Het
Ubqln4	A	G	3: 88,473,023 (GRCm39)	T493A	probably benign	Het
Ugt2b34	A	G	5: 87,039,158 (GRCm39)	L501P	probably damaging	Het
Umod	T	C	7: 119,068,700 (GRCm39)	I449V	probably damaging	Het
Vmn2r51	C	A	7: 9,833,953 (GRCm39)	D362Y	possibly damaging	Het
Xirp2	A	C	2: 67,346,488 (GRCm39)	T2910P	probably benign	Het
Zscan20	A	G	4: 128,498,315 (GRCm39)	S28P	probably benign	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32,163,484 (GRCm39)	missense	probably benign
IGL02183:Rhbdf1	APN	11	32,160,543 (GRCm39)	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
BB005:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
FR4589:Rhbdf1	UTSW	11	32,164,391 (GRCm39)	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32,160,498 (GRCm39)	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32,160,042 (GRCm39)	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32,160,875 (GRCm39)	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32,165,053 (GRCm39)	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32,163,432 (GRCm39)	splice site	probably null
R1952:Rhbdf1	UTSW	11	32,164,277 (GRCm39)	nonsense	probably null
R2017:Rhbdf1	UTSW	11	32,160,471 (GRCm39)	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32,164,088 (GRCm39)	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32,159,985 (GRCm39)	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32,166,236 (GRCm39)	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32,163,369 (GRCm39)	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32,164,517 (GRCm39)	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32,160,222 (GRCm39)	splice site	probably null
R5728:Rhbdf1	UTSW	11	32,159,901 (GRCm39)	splice site	probably null
R5925:Rhbdf1	UTSW	11	32,162,906 (GRCm39)	missense	probably benign	0.24
R5940:Rhbdf1	UTSW	11	32,159,847 (GRCm39)	missense	probably benign	0.00
R6083:Rhbdf1	UTSW	11	32,160,066 (GRCm39)	missense	probably damaging	1.00
R6088:Rhbdf1	UTSW	11	32,162,007 (GRCm39)	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32,162,915 (GRCm39)	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32,165,652 (GRCm39)	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32,164,042 (GRCm39)	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32,159,970 (GRCm39)	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32,162,903 (GRCm39)	missense	probably benign	0.01
R7928:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32,166,258 (GRCm39)	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32,160,523 (GRCm39)	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32,164,563 (GRCm39)	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32,160,162 (GRCm39)	missense	probably damaging	0.98
R9040:Rhbdf1	UTSW	11	32,163,063 (GRCm39)	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32,160,754 (GRCm39)	missense	probably benign	0.00
R9509:Rhbdf1	UTSW	11	32,165,055 (GRCm39)	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32,163,101 (GRCm39)	missense	probably benign	0.00
R9654:Rhbdf1	UTSW	11	32,166,028 (GRCm39)	missense	probably benign
V3553:Rhbdf1	UTSW	11	32,161,583 (GRCm39)	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32,165,125 (GRCm39)	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