Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Rhbdl3'

403961

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Rhbdl4, Ventrhoid, Vrho

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80191738-80246781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80210492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 82 (A82T)

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017836]

AlphaFold

P58873

Predicted Effect

probably benign
Transcript: ENSMUST00000017836
AA Change: A82T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: A82T

Domain	Start	End	E-Value	Type
SCOP:d1c7va_	36	104	2e-12	SMART
Blast:EFh	38	66	6e-11	BLAST
PDB:2RRT\|A	43	102	6e-6	PDB
Blast:EFh	74	102	9e-10	BLAST
transmembrane domain	162	184	N/A	INTRINSIC
Pfam:Rhomboid	205	362	1.6e-34	PFAM
transmembrane domain	370	392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138846

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Entpd8	C	T	2: 24,975,057 (GRCm39)	R463W	probably benign	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mfn1	T	C	3: 32,618,354 (GRCm39)	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbfox3	T	C	11: 118,387,178 (GRCm39)	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Tubb1	A	G	2: 174,299,217 (GRCm39)	M300V	probably damaging	Het
Ubfd1	C	T	7: 121,668,091 (GRCm39)	A207V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	probably damaging	Het

Other mutations in Rhbdl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Rhbdl3	APN	11	80,244,268 (GRCm39)	missense	probably damaging	1.00
IGL02003:Rhbdl3	APN	11	80,228,342 (GRCm39)	missense	possibly damaging	0.82
IGL02302:Rhbdl3	APN	11	80,244,507 (GRCm39)	makesense	probably null
IGL02972:Rhbdl3	APN	11	80,222,742 (GRCm39)	splice site	probably benign
IGL03028:Rhbdl3	APN	11	80,214,287 (GRCm39)	nonsense	probably null
IGL03033:Rhbdl3	APN	11	80,237,653 (GRCm39)	missense	probably damaging	0.99
IGL03113:Rhbdl3	APN	11	80,244,439 (GRCm39)	missense	possibly damaging	0.69
R0193:Rhbdl3	UTSW	11	80,244,400 (GRCm39)	missense	possibly damaging	0.55
R0358:Rhbdl3	UTSW	11	80,244,457 (GRCm39)	missense	probably damaging	0.99
R0481:Rhbdl3	UTSW	11	80,214,175 (GRCm39)	splice site	probably benign
R0616:Rhbdl3	UTSW	11	80,222,687 (GRCm39)	missense	probably damaging	0.99
R1171:Rhbdl3	UTSW	11	80,244,418 (GRCm39)	missense	possibly damaging	0.52
R2166:Rhbdl3	UTSW	11	80,210,523 (GRCm39)	missense	probably damaging	1.00
R3500:Rhbdl3	UTSW	11	80,210,531 (GRCm39)	missense	probably damaging	0.98
R4580:Rhbdl3	UTSW	11	80,244,471 (GRCm39)	missense	probably damaging	1.00
R4900:Rhbdl3	UTSW	11	80,210,439 (GRCm39)	missense	probably benign	0.13
R5513:Rhbdl3	UTSW	11	80,222,668 (GRCm39)	missense	probably damaging	0.99
R5595:Rhbdl3	UTSW	11	80,228,409 (GRCm39)	missense	probably damaging	0.99
R5941:Rhbdl3	UTSW	11	80,222,715 (GRCm39)	missense	probably benign	0.18
R6372:Rhbdl3	UTSW	11	80,221,482 (GRCm39)	missense	probably damaging	1.00
R6935:Rhbdl3	UTSW	11	80,228,322 (GRCm39)	missense	probably damaging	1.00
R7252:Rhbdl3	UTSW	11	80,228,411 (GRCm39)	missense	possibly damaging	0.60
R7389:Rhbdl3	UTSW	11	80,237,665 (GRCm39)	missense	possibly damaging	0.95
R7404:Rhbdl3	UTSW	11	80,237,659 (GRCm39)	missense	probably damaging	1.00
R7745:Rhbdl3	UTSW	11	80,214,405 (GRCm39)	missense	possibly damaging	0.74
R7768:Rhbdl3	UTSW	11	80,221,447 (GRCm39)	missense	probably benign
R8669:Rhbdl3	UTSW	11	80,244,339 (GRCm39)	missense	probably damaging	1.00
R9557:Rhbdl3	UTSW	11	80,244,277 (GRCm39)	missense	probably benign	0.37
R9779:Rhbdl3	UTSW	11	80,214,317 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGTAGAGGGCCAGTTCCAC -3'
(R):5'- TCACCTGTTGAAGCTGAGGC -3'

Sequencing Primer
(F):5'- ATCTCTGTGAGTTCAAGGCCAGC -3'
(R):5'- TGTTGAAGCTGAGGCCATTCAAAC -3'

Posted On

2016-07-22