Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:R3hcc1l'

180522

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

R3hcc1l

Ensembl Gene

ENSMUSG00000025184

Gene Name

R3H domain and coiled-coil containing 1 like

Synonyms

1700036B12Rik, D19Ertd386e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

42507198-42580782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42551389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 129 (A129T)

Ref Sequence

ENSEMBL: ENSMUSP00000125554 (fasta)

Gene Model

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

AlphaFold

Q8BJM3

Predicted Effect

probably benign
Transcript: ENSMUST00000026188
AA Change: A129T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: A129T

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 benign
Transcript: ENSMUST00000160107

SMART Domains

Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184

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 damaging
Transcript: ENSMUST00000160893
AA Change: A129T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162829

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Apc2	A	G	10: 80,147,574 (GRCm39)	D847G	probably damaging	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Bmp2	T	A	2: 133,396,578 (GRCm39)	M78K	possibly damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lrrc46	C	T	11: 96,926,354 (GRCm39)	E181K	probably benign	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Or5an1	A	T	19: 12,261,069 (GRCm39)	Y219F	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Sec11a	T	C	7: 80,584,810 (GRCm39)	I42M	probably benign	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	probably damaging	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
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
R8222:R3hcc1l	UTSW	19	42,564,616 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07