Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Rhbdf1'

718022

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Egfr-rs, Dist1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32159585-32172300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32165055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 106 (I106N)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000144902] [ENSMUST00000146179] [ENSMUST00000150381]

AlphaFold

Q6PIX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020524
AA Change: I106N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: I106N

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 damaging
Transcript: ENSMUST00000132578
AA Change: I106N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282
AA Change: I106N

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

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282

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: ENSMUST00000144902

SMART Domains

Protein: ENSMUSP00000122533
Gene: ENSMUSG00000020282

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146179
AA Change: I106N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282
AA Change: I106N

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: 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: 99.6%
20x: 98.6%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Acan	C	T	7: 78,740,768 (GRCm39)	P378L	probably damaging	Het
Akap6	A	G	12: 53,189,021 (GRCm39)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,096,349 (GRCm39)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,372,968 (GRCm39)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,762,772 (GRCm39)	I676T	unknown	Het
Capn13	T	C	17: 73,644,446 (GRCm39)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,414,143 (GRCm39)	V894I	probably benign	Het
Chd4	T	A	6: 125,099,485 (GRCm39)	L1655Q	possibly damaging	Het
Chi3l1	G	A	1: 134,116,413 (GRCm39)	E307K	probably damaging	Het
Dhfr	T	A	13: 92,504,739 (GRCm39)	I139N	probably damaging	Het
Dock8	A	G	19: 25,072,985 (GRCm39)	S422G	probably benign	Het
Dspp	C	A	5: 104,325,657 (GRCm39)	D673E	unknown	Het
Dst	G	T	1: 33,947,465 (GRCm39)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,702,415 (GRCm39)	E26D	probably benign	Het
Dysf	A	T	6: 84,187,779 (GRCm39)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 76,994,977 (GRCm39)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm39)	I237V	probably benign	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fat2	A	G	11: 55,200,713 (GRCm39)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,247,550 (GRCm39)	G448A	probably benign	Het
Fbxw21	A	G	9: 108,977,217 (GRCm39)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,649,395 (GRCm39)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,330,771 (GRCm39)	V177M	probably benign	Het
Il2rb	C	A	15: 78,374,416 (GRCm39)	W84L	probably damaging	Het
Kank4	T	A	4: 98,663,104 (GRCm39)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,190,629 (GRCm39)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Lifr	A	G	15: 7,188,955 (GRCm39)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,358,119 (GRCm39)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,642,951 (GRCm39)	V175E	probably damaging	Het
Mdm1	T	C	10: 117,982,730 (GRCm39)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Mylk4	T	C	13: 32,904,543 (GRCm39)	N197S	probably benign	Het
Neurl4	T	A	11: 69,792,971 (GRCm39)	L83*	probably null	Het
Nlrc3	T	C	16: 3,782,680 (GRCm39)	D259G	probably damaging	Het
Nsf	A	T	11: 103,754,074 (GRCm39)	D487E	probably benign	Het
Or2n1e	A	G	17: 38,586,281 (GRCm39)	I206M	probably benign	Het
Or2y1	A	G	11: 49,385,476 (GRCm39)	I39V	probably benign	Het
Or5p50	T	A	7: 107,422,440 (GRCm39)	T79S	probably benign	Het
Palb2	T	A	7: 121,727,399 (GRCm39)	K157M	probably damaging	Het
Pbrm1	T	C	14: 30,806,914 (GRCm39)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,330,989 (GRCm39)	M364K	probably damaging	Het
Pf4	G	T	5: 90,921,048 (GRCm39)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,338,721 (GRCm39)	M79T	probably benign	Het
Pip4p2	T	A	4: 14,892,485 (GRCm39)	C116*	probably null	Het
Polr3b	T	G	10: 84,467,650 (GRCm39)	Y77D	probably damaging	Het
Pomt2	T	A	12: 87,184,802 (GRCm39)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,051,838 (GRCm39)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,061,391 (GRCm39)	K119*	probably null	Het
Rbbp6	T	A	7: 122,597,791 (GRCm39)	Y701N	unknown	Het
Relch	A	G	1: 105,614,704 (GRCm39)	E216G	probably damaging	Het
Reln	A	T	5: 22,549,198 (GRCm39)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,812,576 (GRCm39)	N41S	probably benign	Het
Robo1	T	A	16: 72,759,167 (GRCm39)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scart2	T	A	7: 139,879,644 (GRCm39)	Y1093*	probably null	Het
Scnn1a	A	T	6: 125,319,604 (GRCm39)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,328,895 (GRCm39)	P45L	probably benign	Het
Setdb1	A	C	3: 95,261,900 (GRCm39)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,668,443 (GRCm39)	M701L	probably damaging	Het
Spata31h1	A	T	10: 82,132,229 (GRCm39)	N260K	probably benign	Het
Supv3l1	T	C	10: 62,265,411 (GRCm39)	T710A	probably benign	Het
Syne1	A	T	10: 5,298,927 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,766,292 (GRCm39)	Y743*	probably null	Het
Tgm2	A	T	2: 157,969,210 (GRCm39)	Y388*	probably null	Het
Tor3a	A	G	1: 156,483,499 (GRCm39)	S308P	possibly damaging	Het
Trim12a	T	C	7: 103,953,551 (GRCm39)	K187E	probably benign	Het
Trpc1	C	T	9: 95,625,249 (GRCm39)		probably null	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,648,440 (GRCm39)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,221,687 (GRCm39)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,404,075 (GRCm39)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,457 (GRCm39)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm39)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,887,876 (GRCm39)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,112,943 (GRCm39)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,654,629 (GRCm39)	Y374*	probably null	Het
Zfp869	C	A	8: 70,159,596 (GRCm39)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,354,892 (GRCm39)	A806T	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
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
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'- AGGCTCCCAGGGATACTTTC -3'
(R):5'- TGTCCTGTCCTTGGAGTGAC -3'

Sequencing Primer
(F):5'- AGGGATACTTTCTCTCCTCAACC -3'
(R):5'- CCTTGGAGTGACTGGGGGC -3'

Posted On

2022-07-18