Mutagenetix > Incidental Mutation

Incidental Mutation 'R8222:R3hcc1l'

636794

Institutional Source

Beutler Lab

Gene Symbol

R3hcc1l

Ensembl Gene

ENSMUSG00000025184

Gene Name

R3H domain and coiled-coil containing 1 like

Synonyms

1700036B12Rik, D19Ertd386e

MMRRC Submission

067640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42507198-42580782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42564616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 643 (L643H)

Ref Sequence

ENSEMBL: ENSMUSP00000026188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026188] [ENSMUST00000160107] [ENSMUST00000160893]

AlphaFold

Q8BJM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000026188
AA Change: L643H

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

SMART Domains

Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: L643H

Domain	Start	End	E-Value	Type
low complexity region	163	178	N/A	INTRINSIC
low complexity region	694	706	N/A	INTRINSIC
coiled coil region	734	766	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160107
AA Change: L63H

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

SMART Domains

Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184
AA Change: L63H

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	154	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160893

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	C	T	19: 40,562,296 (GRCm39)	V243I	probably benign	Het
Ankrd11	A	T	8: 123,622,347 (GRCm39)	S481T	probably damaging	Het
Atg2b	A	G	12: 105,618,475 (GRCm39)	I859T	possibly damaging	Het
B4galt3	G	A	1: 171,100,253 (GRCm39)	R141Q	possibly damaging	Het
Bace1	T	C	9: 45,768,491 (GRCm39)	V262A	probably damaging	Het
BC106179	A	T	16: 23,043,055 (GRCm39)	I47N	noncoding transcript	Het
Brpf1	C	T	6: 113,286,999 (GRCm39)	P76S	probably benign	Het
Cdk1	A	G	10: 69,176,426 (GRCm39)	V227A	probably benign	Het
Ceacam20	T	C	7: 19,705,618 (GRCm39)	V203A	probably benign	Het
Cfap251	T	A	5: 123,440,486 (GRCm39)	Y1091N	probably damaging	Het
Cma2	T	C	14: 56,210,727 (GRCm39)	V194A	probably benign	Het
Cnnm4	A	G	1: 36,545,617 (GRCm39)	D749G	probably benign	Het
Cyp11b2	T	C	15: 74,728,059 (GRCm39)	T8A	probably benign	Het
Dlk2	A	G	17: 46,613,384 (GRCm39)	H170R	probably benign	Het
Esyt1	C	T	10: 128,347,647 (GRCm39)	R987Q	possibly damaging	Het
Ganc	T	C	2: 120,276,933 (GRCm39)	I665T	probably damaging	Het
Gas6	T	C	8: 13,520,276 (GRCm39)	T471A	probably benign	Het
Grik2	A	G	10: 49,449,744 (GRCm39)	F153L	probably benign	Het
Heatr5b	A	G	17: 79,109,130 (GRCm39)	V1043A	possibly damaging	Het
Ipo5	A	G	14: 121,157,414 (GRCm39)	D84G	probably benign	Het
Irak4	T	A	15: 94,459,110 (GRCm39)		probably null	Het
Lrp4	T	A	2: 91,305,086 (GRCm39)	C238S	probably damaging	Het
Mau2	A	T	8: 70,485,827 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,707,477 (GRCm39)	F1589L	probably benign	Het
Mlxip	T	G	5: 123,585,596 (GRCm39)	S662A	probably benign	Het
Mn1	A	T	5: 111,566,546 (GRCm39)	N172I	probably damaging	Het
Mup2	A	C	4: 60,138,454 (GRCm39)	D79E	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nlrp3	A	G	11: 59,439,614 (GRCm39)	E397G	probably damaging	Het
Odf2l	A	G	3: 144,833,799 (GRCm39)	E153G	probably damaging	Het
Or13p10	T	C	4: 118,523,113 (GRCm39)	L133P	probably damaging	Het
Or51f5	G	T	7: 102,424,099 (GRCm39)	D123Y	probably damaging	Het
Or5d36	T	A	2: 87,901,381 (GRCm39)	Y115F	probably benign	Het
Or5l13	T	C	2: 87,779,788 (GRCm39)	N263S	probably benign	Het
Pkdrej	T	A	15: 85,701,640 (GRCm39)	H1432L	probably benign	Het
Plec	C	T	15: 76,063,374 (GRCm39)	R2232H	possibly damaging	Het
Polk	T	C	13: 96,632,023 (GRCm39)	M317V	possibly damaging	Het
Ppp4r3a	A	G	12: 101,008,164 (GRCm39)	S758P	probably benign	Het
Pramel26	A	T	4: 143,536,893 (GRCm39)	D479E	possibly damaging	Het
Prdm9	A	G	17: 15,765,035 (GRCm39)	S582P	possibly damaging	Het
Rassf8	G	A	6: 145,765,783 (GRCm39)	V38M	unknown	Het
Reln	G	A	5: 22,136,475 (GRCm39)	Q2518*	probably null	Het
Sel1l3	A	G	5: 53,345,296 (GRCm39)		probably null	Het
Serpina3m	A	T	12: 104,358,960 (GRCm39)	D324V	possibly damaging	Het
Slc12a6	T	A	2: 112,169,870 (GRCm39)		probably null	Het
Slc25a3	A	G	10: 90,954,053 (GRCm39)	W219R	probably damaging	Het
Sort1	T	A	3: 108,241,951 (GRCm39)	V299E	probably benign	Het
Stx6	A	G	1: 155,073,889 (GRCm39)	D233G	possibly damaging	Het
Tefm	A	G	11: 80,031,230 (GRCm39)	V2A		Het
Tfdp2	T	C	9: 96,192,666 (GRCm39)	S190P	possibly damaging	Het
Tmprss7	A	T	16: 45,478,461 (GRCm39)	I755N	probably damaging	Het
Trpm8	A	G	1: 88,253,390 (GRCm39)		probably null	Het
Ube2q2l	A	G	6: 136,377,882 (GRCm39)	I316T	probably damaging	Het
Ugt2a2	A	G	5: 87,608,369 (GRCm39)	L490P	probably damaging	Het
Utp20	A	G	10: 88,614,234 (GRCm39)	L1240P	probably damaging	Het
Vmn1r159	G	T	7: 22,542,608 (GRCm39)	Y141*	probably null	Het
Vmn2r56	T	A	7: 12,444,960 (GRCm39)	Y431F	probably benign	Het

Other mutations in R3hcc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:R3hcc1l	APN	19	42,552,391 (GRCm39)	missense	probably benign	0.04
IGL01731:R3hcc1l	APN	19	42,551,240 (GRCm39)	missense	probably benign	0.01
IGL01921:R3hcc1l	APN	19	42,552,220 (GRCm39)	missense	possibly damaging	0.87
IGL01933:R3hcc1l	APN	19	42,551,389 (GRCm39)	missense	probably damaging	0.99
IGL02047:R3hcc1l	APN	19	42,552,258 (GRCm39)	missense	probably benign	0.20
IGL02658:R3hcc1l	APN	19	42,551,141 (GRCm39)	missense	probably damaging	0.99
IGL02952:R3hcc1l	APN	19	42,552,433 (GRCm39)	missense	probably damaging	0.97
R0233:R3hcc1l	UTSW	19	42,571,360 (GRCm39)	critical splice donor site	probably null
R0233:R3hcc1l	UTSW	19	42,571,360 (GRCm39)	critical splice donor site	probably null
R0254:R3hcc1l	UTSW	19	42,551,587 (GRCm39)	missense	probably damaging	1.00
R0285:R3hcc1l	UTSW	19	42,564,568 (GRCm39)	missense	probably damaging	1.00
R0483:R3hcc1l	UTSW	19	42,550,995 (GRCm39)	utr 5 prime	probably benign
R0727:R3hcc1l	UTSW	19	42,564,514 (GRCm39)	missense	probably damaging	1.00
R1052:R3hcc1l	UTSW	19	42,552,093 (GRCm39)	missense	probably damaging	0.99
R1061:R3hcc1l	UTSW	19	42,571,865 (GRCm39)	nonsense	probably null
R1570:R3hcc1l	UTSW	19	42,570,393 (GRCm39)	missense	probably damaging	1.00
R1641:R3hcc1l	UTSW	19	42,552,046 (GRCm39)	missense	possibly damaging	0.87
R2378:R3hcc1l	UTSW	19	42,551,912 (GRCm39)	missense	probably damaging	0.99
R2696:R3hcc1l	UTSW	19	42,552,427 (GRCm39)	missense	possibly damaging	0.94
R3051:R3hcc1l	UTSW	19	42,551,064 (GRCm39)	nonsense	probably null
R3053:R3hcc1l	UTSW	19	42,551,064 (GRCm39)	nonsense	probably null
R4471:R3hcc1l	UTSW	19	42,571,259 (GRCm39)	splice site	probably benign
R4643:R3hcc1l	UTSW	19	42,551,239 (GRCm39)	missense	probably benign	0.09
R4772:R3hcc1l	UTSW	19	42,571,996 (GRCm39)	splice site	probably benign
R5524:R3hcc1l	UTSW	19	42,552,307 (GRCm39)	nonsense	probably null
R5976:R3hcc1l	UTSW	19	42,551,789 (GRCm39)	missense	probably benign	0.06
R6965:R3hcc1l	UTSW	19	42,551,284 (GRCm39)	missense	probably damaging	1.00
R7086:R3hcc1l	UTSW	19	42,570,409 (GRCm39)	missense	probably damaging	0.99
R7158:R3hcc1l	UTSW	19	42,571,868 (GRCm39)	missense	probably damaging	1.00
R7317:R3hcc1l	UTSW	19	42,571,979 (GRCm39)	nonsense	probably null
R7447:R3hcc1l	UTSW	19	42,551,101 (GRCm39)	missense	probably benign	0.02
R7792:R3hcc1l	UTSW	19	42,552,403 (GRCm39)	missense	probably damaging	0.96
R8756:R3hcc1l	UTSW	19	42,552,073 (GRCm39)	missense	probably damaging	0.99
R9204:R3hcc1l	UTSW	19	42,552,301 (GRCm39)	missense	probably benign	0.02
R9514:R3hcc1l	UTSW	19	42,507,203 (GRCm39)	unclassified	probably benign
R9664:R3hcc1l	UTSW	19	42,552,671 (GRCm39)	missense	probably benign	0.03
X0064:R3hcc1l	UTSW	19	42,571,984 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCCATTAGCAGGCATTTTACTATG -3'
(R):5'- GTTACAACAGGATCTATAAAGGCTACC -3'

Sequencing Primer
(F):5'- CAGCCATGAACTTCCTGA -3'
(R):5'- AAAAACTGTGGTCTGAAATACAGG -3'

Posted On

2020-07-13