Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:R3hcc1'

396899

Institutional Source

Beutler Lab

Gene Symbol

R3hcc1

Ensembl Gene

ENSMUSG00000034194

Gene Name

R3H domain and coiled-coil containing 1

Synonyms

1700020M16Rik

MMRRC Submission

042741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69934756-69945033 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 69935053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022660] [ENSMUST00000100420] [ENSMUST00000118374] [ENSMUST00000121142] [ENSMUST00000216152]

AlphaFold

Q8BSI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022660

SMART Domains

Protein: ENSMUSP00000022660
Gene: ENSMUSG00000034205

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SR	61	162	4.4e-53	SMART
SR	189	305	8.41e-18	SMART
SR	329	428	2.29e-51	SMART
SR	438	546	4.6e-33	SMART
Pfam:Lysyl_oxidase	550	753	1.9e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100420

SMART Domains

Protein: ENSMUSP00000097987
Gene: ENSMUSG00000034205

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SR	61	162	4.4e-53	SMART
SR	189	305	8.41e-18	SMART
SR	329	428	2.29e-51	SMART
SR	438	546	4.6e-33	SMART
Pfam:Lysyl_oxidase	550	750	1.1e-102	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000118374

SMART Domains

Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194

Domain	Start	End	E-Value	Type
coiled coil region	52	132	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121142

SMART Domains

Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194

Domain	Start	End	E-Value	Type
coiled coil region	52	132	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138326

Predicted Effect

probably null
Transcript: ENSMUST00000194548

SMART Domains

Protein: ENSMUSP00000141254
Gene: ENSMUSG00000034194

Domain	Start	End	E-Value	Type
coiled coil region	52	132	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000216152

Meta Mutation Damage Score

0.9592

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,352 (GRCm39)	T412A	probably benign	Het
Aldh5a1	T	A	13: 25,097,776 (GRCm39)	M420L	possibly damaging	Het
Armc2	A	G	10: 41,884,711 (GRCm39)	S77P	probably damaging	Het
Avil	A	G	10: 126,856,317 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,100,530 (GRCm39)	H323R	probably damaging	Het
Bmp5	T	A	9: 75,801,035 (GRCm39)	F388L	probably damaging	Het
Brca2	T	G	5: 150,465,573 (GRCm39)	V1779G	possibly damaging	Het
Cblb	T	A	16: 51,932,483 (GRCm39)	S147T	probably damaging	Het
Cblc	T	C	7: 19,519,233 (GRCm39)	E409G	probably benign	Het
Cdc34b	C	T	11: 94,632,886 (GRCm39)	R29W	probably damaging	Het
Clic6	T	A	16: 92,324,954 (GRCm39)	Y371N	probably benign	Het
Col5a2	A	G	1: 45,425,991 (GRCm39)		probably null	Het
Coro1a	A	T	7: 126,302,221 (GRCm39)	V42D	probably damaging	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Crb1	A	C	1: 139,170,756 (GRCm39)	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,549,378 (GRCm39)	T299A	possibly damaging	Het
Dock5	G	A	14: 68,029,738 (GRCm39)	R1019C	probably benign	Het
Exoc8	T	C	8: 125,622,952 (GRCm39)	T472A	probably benign	Het
Fancc	A	G	13: 63,469,679 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,852,733 (GRCm39)	M1340K	probably benign	Het
Inpp5d	T	C	1: 87,604,064 (GRCm39)	L244P	probably damaging	Het
Ireb2	A	G	9: 54,799,831 (GRCm39)	N424S	probably benign	Het
Krt35	T	C	11: 99,984,875 (GRCm39)	D261G	probably damaging	Het
Lipc	T	A	9: 70,720,192 (GRCm39)	I272L	probably benign	Het
Lpcat3	A	G	6: 124,676,357 (GRCm39)		probably benign	Het
Lzts1	T	C	8: 69,591,236 (GRCm39)	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008 (GRCm39)	I5540V	possibly damaging	Het
Msln	T	C	17: 25,970,563 (GRCm39)	S231G	probably benign	Het
Mup8	G	A	4: 60,221,062 (GRCm39)	T101M	probably benign	Het
Myh8	T	C	11: 67,179,179 (GRCm39)	I524T	probably damaging	Het
Pappa2	A	G	1: 158,589,189 (GRCm39)	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,416 (GRCm39)	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,719 (GRCm39)	N389S	probably benign	Het
Pitrm1	C	A	13: 6,617,507 (GRCm39)	S620R	probably benign	Het
Plod3	T	A	5: 137,023,932 (GRCm39)		probably benign	Het
Por	A	T	5: 135,759,771 (GRCm39)	Q194L	probably benign	Het
Prkag3	A	T	1: 74,780,646 (GRCm39)	Y396N	probably damaging	Het
Rcan3	C	T	4: 135,152,592 (GRCm39)	S43N	probably damaging	Het
Rhot1	A	G	11: 80,111,098 (GRCm39)	T31A	probably damaging	Het
Rnps1	T	G	17: 24,637,486 (GRCm39)	S43A	unknown	Het
Rp1	T	C	1: 4,416,426 (GRCm39)	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,859,428 (GRCm39)		noncoding transcript	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181 (GRCm39)	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Sptbn2	A	G	19: 4,787,885 (GRCm39)	T955A	probably benign	Het
Stfa3	T	C	16: 36,272,581 (GRCm39)	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,666,378 (GRCm39)	E75G	probably benign	Het
Tmprss15	T	C	16: 78,800,298 (GRCm39)	Q595R	probably benign	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trat1	T	C	16: 48,555,300 (GRCm39)	D144G	probably damaging	Het
Trim25	T	C	11: 88,890,358 (GRCm39)	V15A	probably benign	Het
Tulp1	A	C	17: 28,578,034 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,865,734 (GRCm39)	M66K	probably benign	Het
Vmn1r206	T	A	13: 22,804,775 (GRCm39)	N144I	probably damaging	Het
Wwc2	T	C	8: 48,353,796 (GRCm39)	T113A	probably benign	Het
Xpo5	A	C	17: 46,528,535 (GRCm39)	E313D	probably damaging	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het

Other mutations in R3hcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:R3hcc1	APN	14	69,937,477 (GRCm39)	missense	probably damaging	0.99
IGL02089:R3hcc1	APN	14	69,937,475 (GRCm39)	missense	possibly damaging	0.90
R3737:R3hcc1	UTSW	14	69,935,042 (GRCm39)	missense	probably benign	0.33
R4041:R3hcc1	UTSW	14	69,944,111 (GRCm39)	missense	probably damaging	1.00
R4512:R3hcc1	UTSW	14	69,936,060 (GRCm39)	missense	probably damaging	1.00
R5058:R3hcc1	UTSW	14	69,941,463 (GRCm39)	missense	probably damaging	1.00
R5520:R3hcc1	UTSW	14	69,936,057 (GRCm39)	nonsense	probably null
R6910:R3hcc1	UTSW	14	69,935,024 (GRCm39)	missense	probably damaging	1.00
R7019:R3hcc1	UTSW	14	69,941,574 (GRCm39)	missense	probably damaging	1.00
R7148:R3hcc1	UTSW	14	69,943,001 (GRCm39)	missense	possibly damaging	0.92
R7392:R3hcc1	UTSW	14	69,943,329 (GRCm39)	critical splice acceptor site	probably null
R7792:R3hcc1	UTSW	14	69,942,957 (GRCm39)	missense	probably benign
R7975:R3hcc1	UTSW	14	69,944,593 (GRCm39)	missense	probably damaging	1.00
R8393:R3hcc1	UTSW	14	69,942,890 (GRCm39)	missense	probably benign	0.15
Z1177:R3hcc1	UTSW	14	69,942,776 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CAGCCTAATTCGGAGAGCTG -3'
(R):5'- CCTCTCAGAGGGTCTTAAGGAG -3'

Sequencing Primer
(F):5'- CTAATTCGGAGAGCTGGGTCC -3'
(R):5'- CTACTGCACAGATGAGCCAGG -3'

Posted On

2016-06-21