Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Rhbdl3'

573316

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl3

Ensembl Gene

ENSMUSG00000017692

Gene Name

rhomboid like 3

Synonyms

Rhbdl4, Ventrhoid, Vrho

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

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

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80191738-80246781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80237665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 299 (M299K)

Ref Sequence

ENSEMBL: ENSMUSP00000017836 (fasta)

Gene Model

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

AlphaFold

P58873

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017836
AA Change: M299K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017836
Gene: ENSMUSG00000017692
AA Change: M299K

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

Meta Mutation Damage Score

0.8973

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	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
R5276:Rhbdl3	UTSW	11	80,210,492 (GRCm39)	missense	probably benign	0.07
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
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'- TGGGATAATCTCACCATTGTCGG -3'
(R):5'- ACCGGCTCTTGAAGGGTAAG -3'

Sequencing Primer
(F):5'- GTCGGAAATCTTAAAGCCATGCTG -3'
(R):5'- CTCTTGAAGGGTAAGGACAGAGCC -3'

Posted On

2019-09-13