Mutagenetix > Incidental Mutation

Incidental Mutation 'R0512:Rhbdf1'

47923

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Egfr-rs, Dist1

MMRRC Submission

038706-MU

Accession Numbers

Essential gene?

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

Stock #

R0512 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

32159585-32172300 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32160875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 19 (C19*)

Ref Sequence

ENSEMBL: ENSMUSP00000117471 (fasta)

Gene Model

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

AlphaFold

Q6PIX5

Predicted Effect

probably null
Transcript: ENSMUST00000020524
AA Change: C616*

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: C616*

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

noncoding transcript
Transcript: ENSMUST00000125837

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

noncoding transcript
Transcript: ENSMUST00000137125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142274

Predicted Effect

probably null
Transcript: ENSMUST00000143988
AA Change: C19*

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: C19*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155736

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	G	5: 115,001,569 (GRCm39)	M22R	probably benign	Het
Abca8b	C	A	11: 109,841,476 (GRCm39)	M1039I	probably benign	Het
Actn2	A	T	13: 12,292,301 (GRCm39)	I653N	probably damaging	Het
Actr8	G	T	14: 29,700,513 (GRCm39)	V31L	probably benign	Het
Adam30	T	C	3: 98,069,441 (GRCm39)	C425R	probably damaging	Het
Armc1	A	G	3: 19,203,659 (GRCm39)	V89A	possibly damaging	Het
Atr	T	C	9: 95,817,579 (GRCm39)	M2090T	probably damaging	Het
Braf	T	A	6: 39,641,923 (GRCm39)		probably benign	Het
Cant1	A	T	11: 118,302,091 (GRCm39)	N75K	probably benign	Het
Chd7	C	T	4: 8,805,139 (GRCm39)		probably benign	Het
Clec16a	A	G	16: 10,432,444 (GRCm39)	Y488C	probably damaging	Het
Col6a3	A	T	1: 90,749,520 (GRCm39)		probably benign	Het
Col9a2	T	A	4: 120,911,504 (GRCm39)	M615K	probably benign	Het
Dedd	G	A	1: 171,168,498 (GRCm39)	R228H	probably damaging	Het
Dhtkd1	C	T	2: 5,908,902 (GRCm39)	D731N	probably damaging	Het
Ercc2	A	G	7: 19,127,812 (GRCm39)	T651A	probably damaging	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fam193a	T	C	5: 34,583,735 (GRCm39)	S19P	probably damaging	Het
Fam43a	T	C	16: 30,420,553 (GRCm39)	V379A	possibly damaging	Het
Fat1	C	A	8: 45,404,369 (GRCm39)	Y373*	probably null	Het
Fbxl15	A	C	19: 46,317,861 (GRCm39)	D181A	probably damaging	Het
Flt3	A	T	5: 147,278,080 (GRCm39)	C831*	probably null	Het
Foxj3	T	A	4: 119,443,033 (GRCm39)		probably benign	Het
Glul	T	C	1: 153,781,132 (GRCm39)		probably benign	Het
Gm16380	A	T	9: 53,791,529 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,158 (GRCm39)		noncoding transcript	Het
Hipk1	A	G	3: 103,667,890 (GRCm39)	F559S	possibly damaging	Het
Hnf4g	A	T	3: 3,716,682 (GRCm39)	I284F	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icosl	A	G	10: 77,907,800 (GRCm39)	N120S	possibly damaging	Het
Ift172	A	G	5: 31,442,821 (GRCm39)	V155A	possibly damaging	Het
Kdm4c	A	G	4: 74,252,031 (GRCm39)	E426G	probably benign	Het
Kif23	A	G	9: 61,826,257 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,086,129 (GRCm39)	C1456Y	possibly damaging	Het
Lamc3	T	A	2: 31,827,980 (GRCm39)	L1378Q	probably damaging	Het
Larp1b	T	A	3: 40,924,469 (GRCm39)	L121M	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lepr	A	C	4: 101,671,901 (GRCm39)	D975A	possibly damaging	Het
Magi1	A	G	6: 93,671,045 (GRCm39)	V1068A	probably damaging	Het
Malt1	T	A	18: 65,591,271 (GRCm39)	N358K	probably damaging	Het
Mfap4	T	A	11: 61,378,771 (GRCm39)	W240R	probably damaging	Het
Mis18a	A	G	16: 90,523,244 (GRCm39)	V84A	possibly damaging	Het
Mns1	A	G	9: 72,356,753 (GRCm39)	E308G	possibly damaging	Het
Mpp2	C	A	11: 101,953,116 (GRCm39)	L258F	possibly damaging	Het
Myh2	A	G	11: 67,079,504 (GRCm39)	E987G	probably damaging	Het
Myof	A	G	19: 37,942,972 (GRCm39)	V702A	possibly damaging	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Nrxn2	A	G	19: 6,567,228 (GRCm39)	T1360A	probably damaging	Het
Obox6	A	G	7: 15,567,874 (GRCm39)	I191T	probably benign	Het
Pacs2	G	T	12: 113,014,547 (GRCm39)	R236L	probably damaging	Het
Pcdhb2	T	G	18: 37,429,032 (GRCm39)	V335G	probably damaging	Het
Phyhipl	T	C	10: 70,404,748 (GRCm39)	I140M	probably damaging	Het
Pkhd1	T	C	1: 20,380,738 (GRCm39)		probably benign	Het
Ppp1r3b	T	G	8: 35,851,571 (GRCm39)	C137G	probably damaging	Het
Prdm13	T	A	4: 21,678,490 (GRCm39)	I667F	probably damaging	Het
Prex2	A	G	1: 11,270,157 (GRCm39)	M1281V	probably benign	Het
Rab40b	A	G	11: 121,250,412 (GRCm39)	F81L	probably damaging	Het
Rb1cc1	T	C	1: 6,318,767 (GRCm39)	S729P	probably damaging	Het
Rcl1	A	G	19: 29,105,497 (GRCm39)	D228G	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf150	G	A	8: 83,590,807 (GRCm39)	V57M	probably benign	Het
Rp9	A	G	9: 22,370,015 (GRCm39)	F51L	probably benign	Het
Sav1	A	T	12: 70,015,975 (GRCm39)	Y274*	probably null	Het
Scn4a	A	T	11: 106,236,503 (GRCm39)	D252E	probably damaging	Het
Scn5a	T	C	9: 119,379,724 (GRCm39)	T187A	probably damaging	Het
Sigirr	T	A	7: 140,672,333 (GRCm39)	D229V	probably benign	Het
Slc39a13	T	C	2: 90,896,031 (GRCm39)	S157G	possibly damaging	Het
Slc6a20a	A	G	9: 123,489,471 (GRCm39)	S191P	probably damaging	Het
Sorl1	C	A	9: 41,979,128 (GRCm39)	A457S	probably benign	Het
Spag5	A	G	11: 78,210,412 (GRCm39)		probably benign	Het
Spon1	A	G	7: 113,436,066 (GRCm39)	E119G	possibly damaging	Het
Spred2	T	A	11: 19,958,485 (GRCm39)		probably benign	Het
Sprr3	T	G	3: 92,364,784 (GRCm39)	Q20P	possibly damaging	Het
Strn3	A	T	12: 51,673,966 (GRCm39)	F464L	possibly damaging	Het
Sun1	A	G	5: 139,220,602 (GRCm39)		probably benign	Het
Sypl2	A	G	3: 108,133,486 (GRCm39)	W28R	possibly damaging	Het
Syt5	A	T	7: 4,545,813 (GRCm39)	V150D	probably damaging	Het
Tasor	T	C	14: 27,168,363 (GRCm39)	F302L	probably damaging	Het
Thsd7a	A	G	6: 12,379,604 (GRCm39)	I940T	possibly damaging	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tnrc6a	T	A	7: 122,785,951 (GRCm39)		probably benign	Het
Trp53	T	A	11: 69,479,509 (GRCm39)	L203Q	probably damaging	Het
Tubgcp4	T	C	2: 121,005,900 (GRCm39)	V96A	probably benign	Het
Usp17la	A	G	7: 104,510,246 (GRCm39)	T284A	possibly damaging	Het
Usp34	T	C	11: 23,401,997 (GRCm39)	M2409T	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,449,350 (GRCm39)	I296T	probably benign	Het
Vmn2r67	A	G	7: 84,799,900 (GRCm39)	V446A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp267	T	C	3: 36,220,262 (GRCm39)	C762R	probably damaging	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
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
R8939:Rhbdf1	UTSW	11	32,160,093 (GRCm39)	missense	probably benign	0.00
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'- ACCACTCAGCAGGTAGATGATGGC -3'
(R):5'- GATTTCCAGCAACAGGGAGTGAGAC -3'

Sequencing Primer
(F):5'- GACCGTCATCTGGAAGCAGAC -3'
(R):5'- GACTGGGCTAGTGAAGGTG -3'

Posted On

2013-06-12