Mutagenetix > Incidental Mutations

Incidental Mutation 'R6910:R3hcc1'

538989

Institutional Source

Beutler Lab

Gene Symbol

R3hcc1

Ensembl Gene

ENSMUSG00000034194

Gene Name

R3H domain and coiled-coil containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69697307-69707584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69697575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 454 (P454L)

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 damaging
Transcript: ENSMUST00000118374
AA Change: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: P454L

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 damaging
Transcript: ENSMUST00000121142
AA Change: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: P454L

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 damaging
Transcript: ENSMUST00000216152
AA Change: P454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7561

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,620,447	V151A	probably damaging	Het
Cfap54	A	G	10: 92,836,512	S2899P	probably benign	Het
Chil5	A	G	3: 106,019,661	W82R	probably damaging	Het
Dennd3	A	G	15: 73,555,116	T781A	probably benign	Het
Epha2	A	G	4: 141,321,513	D597G	probably damaging	Het
Gcn1l1	A	G	5: 115,606,538	T1598A	probably benign	Het
Glp2r	A	G	11: 67,730,671	F162S	probably benign	Het
Gm10130	A	T	2: 150,324,067	Q56L	probably benign	Het
Gm17655	T	A	5: 110,047,173	R248*	probably null	Het
Gm9268	T	C	7: 43,024,051	F178L	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Hapln2	A	G	3: 88,023,828	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,982,153	T463K	probably damaging	Het
Ift80	A	C	3: 68,927,735	S458A	probably benign	Het
Lama1	A	G	17: 67,791,464	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801	I171T	probably benign	Het
Micu1	A	G	10: 59,740,667	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,735,192	V9A	unknown	Het
Ncoa7	T	G	10: 30,694,121	I281L	possibly damaging	Het
Nms	A	G	1: 38,941,895	E54G	probably benign	Het
Nrip1	G	A	16: 76,294,417	A84V	probably damaging	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr743	G	A	14: 50,533,873	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,748,232	S349T	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr3	T	C	2: 112,958,175	D170G	probably damaging	Het
Scp2	C	A	4: 108,105,086	G81C	probably damaging	Het
Sez6	A	G	11: 77,953,869	T173A	possibly damaging	Het
Syne1	T	C	10: 5,048,887	H8142R	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,844,546	T520A	probably damaging	Het
Tpm1	A	G	9: 67,031,974	S170P	probably damaging	Het
Try5	T	C	6: 41,311,799	D54G	possibly damaging	Het
Zan	T	C	5: 137,419,080	E3041G	unknown	Het
Zfp616	A	T	11: 74,085,002	H699L	probably damaging	Het

Other mutations in R3hcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:R3hcc1	APN	14	69700028	missense	probably damaging	0.99
IGL02089:R3hcc1	APN	14	69700026	missense	possibly damaging	0.90
R3737:R3hcc1	UTSW	14	69697593	missense	probably benign	0.33
R4041:R3hcc1	UTSW	14	69706662	missense	probably damaging	1.00
R4512:R3hcc1	UTSW	14	69698611	missense	probably damaging	1.00
R5058:R3hcc1	UTSW	14	69704014	missense	probably damaging	1.00
R5159:R3hcc1	UTSW	14	69697604	critical splice acceptor site	probably null
R5520:R3hcc1	UTSW	14	69698608	nonsense	probably null
R7019:R3hcc1	UTSW	14	69704125	missense	probably damaging	1.00
R7148:R3hcc1	UTSW	14	69705552	missense	possibly damaging	0.92
R7392:R3hcc1	UTSW	14	69705880	critical splice acceptor site	probably null
R7792:R3hcc1	UTSW	14	69705508	missense	probably benign
R7975:R3hcc1	UTSW	14	69707144	missense	probably damaging	1.00
R8393:R3hcc1	UTSW	14	69705441	missense	probably benign	0.15
Z1177:R3hcc1	UTSW	14	69705327	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AACTAAAGCCTGCTGTGCC -3'
(R):5'- GAAATATGGGCCTGGAGTCCTC -3'

Sequencing Primer
(F):5'- TAAAGCCTGCTGTGCCCCATAG -3'
(R):5'- TCCTGGACCCCTCTCACAAG -3'

Posted On

2018-11-06