Mutagenetix > Incidental Mutation

Incidental Mutation 'R5572:Rhbdd1'

435700

Institutional Source

Beutler Lab

Gene Symbol

Rhbdd1

Ensembl Gene

ENSMUSG00000026142

Gene Name

rhomboid domain containing 1

Synonyms

4930418P06Rik

MMRRC Submission

043266-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5572 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

82294178-82423087 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82318531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 138 (N138I)

Ref Sequence

ENSEMBL: ENSMUSP00000137770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027322] [ENSMUST00000140020]

AlphaFold

Q8BHC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027322
AA Change: N138I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027322
Gene: ENSMUSG00000026142
AA Change: N138I

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	60	213	6.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140020
AA Change: N138I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137770
Gene: ENSMUSG00000026142
AA Change: N138I

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	59	213	2.7e-20	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,765,108 (GRCm39)		probably null	Het
Abcd4	T	C	12: 84,653,050 (GRCm39)	D380G	probably benign	Het
Actr3b	T	A	5: 26,014,886 (GRCm39)	D68E	probably benign	Het
Apol10a	T	C	15: 77,372,834 (GRCm39)	S157P	probably damaging	Het
Arap3	A	T	18: 38,124,119 (GRCm39)	I327N	probably damaging	Het
Arnt	G	T	3: 95,382,015 (GRCm39)	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,470,449 (GRCm39)	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,412,095 (GRCm39)	R27L	possibly damaging	Het
Bltp2	A	T	11: 78,155,393 (GRCm39)	D167V	probably damaging	Het
C1qc	T	C	4: 136,619,773 (GRCm39)	Y34C	probably benign	Het
C1rb	T	C	6: 124,557,758 (GRCm39)	S632P	probably benign	Het
C3	A	G	17: 57,531,673 (GRCm39)	S284P	probably damaging	Het
Cfap44	T	G	16: 44,301,668 (GRCm39)	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,484,165 (GRCm39)	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,533,070 (GRCm39)	D654G	probably damaging	Het
Col17a1	A	T	19: 47,639,168 (GRCm39)	S1126T	probably benign	Het
Cts3	T	A	13: 61,712,782 (GRCm39)	I313F	probably damaging	Het
Egfl7	T	C	2: 26,481,703 (GRCm39)	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631 (GRCm39)	D272N	probably damaging	Het
Foxp4	A	G	17: 48,191,804 (GRCm39)	V111A	unknown	Het
Hmcn2	A	T	2: 31,304,537 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,304,538 (GRCm39)		probably null	Het
Igsf11	C	T	16: 38,845,294 (GRCm39)	R283C	probably damaging	Het
Il1a	A	G	2: 129,149,838 (GRCm39)	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,778,589 (GRCm39)	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,389,336 (GRCm39)	V921A	possibly damaging	Het
Kirrel3	G	A	9: 34,912,244 (GRCm39)	A196T	probably damaging	Het
Klra1	T	A	6: 130,349,802 (GRCm39)	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,585,755 (GRCm39)	T75I	probably benign	Het
Niban1	T	C	1: 151,584,941 (GRCm39)	S513P	probably benign	Het
Nnmt	A	G	9: 48,503,447 (GRCm39)	L193P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ntm	A	G	9: 28,925,512 (GRCm39)	I191T	probably damaging	Het
Or2ak5	A	G	11: 58,611,055 (GRCm39)	V273A	probably benign	Het
Or52d13	A	C	7: 103,109,905 (GRCm39)	L170R	probably benign	Het
Or52h7	A	T	7: 104,214,201 (GRCm39)	T258S	probably benign	Het
Pam	A	C	1: 97,782,469 (GRCm39)		probably benign	Het
Pomk	T	A	8: 26,473,218 (GRCm39)	H245L	possibly damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rasip1	G	T	7: 45,286,153 (GRCm39)	R792L	probably benign	Het
Ret	T	C	6: 118,132,392 (GRCm39)	Y1016C	probably damaging	Het
Snx13	T	G	12: 35,153,119 (GRCm39)	V383G	probably damaging	Het
Syt3	A	G	7: 44,040,142 (GRCm39)	H125R	probably benign	Het
Tlr6	A	T	5: 65,112,361 (GRCm39)	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,102,836 (GRCm39)	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,326,622 (GRCm39)	Y655C	probably damaging	Het
Ttn	A	T	2: 76,683,972 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Ube3b	G	A	5: 114,544,240 (GRCm39)	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,237,341 (GRCm39)	V188A	possibly damaging	Het
Usp29	A	G	7: 6,965,191 (GRCm39)	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,564,720 (GRCm39)	K55R	probably benign	Het
Wdsub1	A	G	2: 59,693,051 (GRCm39)	F288L	possibly damaging	Het
Zan	C	T	5: 137,392,693 (GRCm39)	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,322,334 (GRCm39)	K376E	probably damaging	Het
Zfp619	A	T	7: 39,184,663 (GRCm39)	Y231F	probably benign	Het

Other mutations in Rhbdd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Rhbdd1	APN	1	82,318,165 (GRCm39)	missense	possibly damaging	0.94
IGL00957:Rhbdd1	APN	1	82,318,362 (GRCm39)	missense	probably damaging	1.00
IGL01771:Rhbdd1	APN	1	82,355,313 (GRCm39)	missense	probably benign	0.41
IGL01980:Rhbdd1	APN	1	82,318,555 (GRCm39)	splice site	probably benign
IGL02654:Rhbdd1	APN	1	82,320,504 (GRCm39)	missense	probably benign	0.16
R0167:Rhbdd1	UTSW	1	82,320,505 (GRCm39)	missense	probably benign	0.00
R2005:Rhbdd1	UTSW	1	82,318,531 (GRCm39)	missense	probably benign	0.00
R2875:Rhbdd1	UTSW	1	82,346,090 (GRCm39)	missense	probably benign	0.02
R2876:Rhbdd1	UTSW	1	82,346,090 (GRCm39)	missense	probably benign	0.02
R4058:Rhbdd1	UTSW	1	82,348,102 (GRCm39)	missense	possibly damaging	0.80
R6526:Rhbdd1	UTSW	1	82,318,380 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAAGACTGGCAGCGTTTAC -3'
(R):5'- GGCAGTCCAAACAATGCTTTC -3'

Sequencing Primer
(F):5'- CCACGGAGATGACTGGCATTTG -3'
(R):5'- AGTCCAAACAATGCTTTCTTTTATCC -3'

Posted On

2016-10-24