Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:R3hcc1l'

329466

Institutional Source

Beutler Lab

Gene Symbol

R3hcc1l

Ensembl Gene

ENSMUSG00000025184

Gene Name

R3H domain and coiled-coil containing 1 like

Synonyms

D19Ertd386e, 1700036B12Rik

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42518759-42592343 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 42582820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124036 (fasta)

Gene Model

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

AlphaFold

Q8BJM3

Predicted Effect

probably benign
Transcript: ENSMUST00000026188

SMART Domains

Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184

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

noncoding transcript
Transcript: ENSMUST00000162238

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
AF067061	G	T	13: 120,264,043 (GRCm38)	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526 (GRCm38)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509 (GRCm38)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214 (GRCm38)	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724 (GRCm38)		probably null	Het
Cdc34b	A	G	11: 94,742,238 (GRCm38)	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476 (GRCm38)		probably null	Het
Ceacam1	T	A	7: 25,474,600 (GRCm38)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,488,278 (GRCm38)		probably null	Het
Cmya5	A	T	13: 93,092,325 (GRCm38)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632 (GRCm38)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069 (GRCm38)	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137 (GRCm38)	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162 (GRCm38)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946 (GRCm38)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,506,635 (GRCm38)		probably benign	Het
Ern1	C	A	11: 106,420,042 (GRCm38)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm38)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673 (GRCm38)	D146E	probably benign	Het
Git1	A	G	11: 77,499,824 (GRCm38)	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474 (GRCm38)	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140 (GRCm38)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922 (GRCm38)		probably benign	Het
Hydin	A	G	8: 110,587,132 (GRCm38)	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506 (GRCm38)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632 (GRCm38)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239 (GRCm38)	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726 (GRCm38)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm38)	E306G	probably benign	Het
Msc	G	C	1: 14,755,678 (GRCm38)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053 (GRCm38)		probably benign	Het
Mvp	C	T	7: 127,001,958 (GRCm38)	M1I	probably null	Het
Myh7	A	T	14: 54,991,854 (GRCm38)	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442 (GRCm38)	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896 (GRCm38)		probably benign	Het
Nrxn3	T	C	12: 90,204,741 (GRCm38)	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631 (GRCm38)	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579 (GRCm38)	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846 (GRCm38)	I24V	probably damaging	Het
Rest	T	C	5: 77,281,180 (GRCm38)	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658 (GRCm38)	S476T	probably damaging	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948 (GRCm38)		probably benign	Het
Slc5a4b	G	A	10: 76,058,891 (GRCm38)	Q594*	probably null	Het
Slk	T	G	19: 47,615,423 (GRCm38)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877 (GRCm38)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753 (GRCm38)	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765 (GRCm38)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817 (GRCm38)		probably null	Het
Taf2	T	C	15: 55,058,880 (GRCm38)	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287 (GRCm38)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm38)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301 (GRCm38)	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156 (GRCm38)	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057 (GRCm38)	V230A	probably benign	Het
Ube2u	G	A	4: 100,481,646 (GRCm38)	W36*	probably null	Het
Ube4a	A	T	9: 44,946,532 (GRCm38)		probably benign	Het
Ulk1	C	T	5: 110,789,357 (GRCm38)	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980 (GRCm38)	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787 (GRCm38)		probably null	Het
Zfp24	A	G	18: 24,018,115 (GRCm38)		probably benign	Het
Zfp777	A	T	6: 48,042,107 (GRCm38)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456 (GRCm38)	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331 (GRCm38)	L2633Q	probably damaging	Het

Other mutations in R3hcc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:R3hcc1l	APN	19	42,563,952 (GRCm38)	missense	probably benign	0.04
IGL01731:R3hcc1l	APN	19	42,562,801 (GRCm38)	missense	probably benign	0.01
IGL01921:R3hcc1l	APN	19	42,563,781 (GRCm38)	missense	possibly damaging	0.87
IGL01933:R3hcc1l	APN	19	42,562,950 (GRCm38)	missense	probably damaging	0.99
IGL02047:R3hcc1l	APN	19	42,563,819 (GRCm38)	missense	probably benign	0.20
IGL02658:R3hcc1l	APN	19	42,562,702 (GRCm38)	missense	probably damaging	0.99
IGL02952:R3hcc1l	APN	19	42,563,994 (GRCm38)	missense	probably damaging	0.97
R0233:R3hcc1l	UTSW	19	42,582,921 (GRCm38)	critical splice donor site	probably null
R0233:R3hcc1l	UTSW	19	42,582,921 (GRCm38)	critical splice donor site	probably null
R0254:R3hcc1l	UTSW	19	42,563,148 (GRCm38)	missense	probably damaging	1.00
R0285:R3hcc1l	UTSW	19	42,576,129 (GRCm38)	missense	probably damaging	1.00
R0483:R3hcc1l	UTSW	19	42,562,556 (GRCm38)	utr 5 prime	probably benign
R0727:R3hcc1l	UTSW	19	42,576,075 (GRCm38)	missense	probably damaging	1.00
R1052:R3hcc1l	UTSW	19	42,563,654 (GRCm38)	missense	probably damaging	0.99
R1061:R3hcc1l	UTSW	19	42,583,426 (GRCm38)	nonsense	probably null
R1570:R3hcc1l	UTSW	19	42,581,954 (GRCm38)	missense	probably damaging	1.00
R1641:R3hcc1l	UTSW	19	42,563,607 (GRCm38)	missense	possibly damaging	0.87
R2378:R3hcc1l	UTSW	19	42,563,473 (GRCm38)	missense	probably damaging	0.99
R2696:R3hcc1l	UTSW	19	42,563,988 (GRCm38)	missense	possibly damaging	0.94
R3051:R3hcc1l	UTSW	19	42,562,625 (GRCm38)	nonsense	probably null
R3053:R3hcc1l	UTSW	19	42,562,625 (GRCm38)	nonsense	probably null
R4643:R3hcc1l	UTSW	19	42,562,800 (GRCm38)	missense	probably benign	0.09
R4772:R3hcc1l	UTSW	19	42,583,557 (GRCm38)	splice site	probably benign
R5524:R3hcc1l	UTSW	19	42,563,868 (GRCm38)	nonsense	probably null
R5976:R3hcc1l	UTSW	19	42,563,350 (GRCm38)	missense	probably benign	0.06
R6965:R3hcc1l	UTSW	19	42,562,845 (GRCm38)	missense	probably damaging	1.00
R7086:R3hcc1l	UTSW	19	42,581,970 (GRCm38)	missense	probably damaging	0.99
R7158:R3hcc1l	UTSW	19	42,583,429 (GRCm38)	missense	probably damaging	1.00
R7317:R3hcc1l	UTSW	19	42,583,540 (GRCm38)	nonsense	probably null
R7447:R3hcc1l	UTSW	19	42,562,662 (GRCm38)	missense	probably benign	0.02
R7792:R3hcc1l	UTSW	19	42,563,964 (GRCm38)	missense	probably damaging	0.96
R8222:R3hcc1l	UTSW	19	42,576,177 (GRCm38)	missense	probably damaging	1.00
R8756:R3hcc1l	UTSW	19	42,563,634 (GRCm38)	missense	probably damaging	0.99
R9204:R3hcc1l	UTSW	19	42,563,862 (GRCm38)	missense	probably benign	0.02
R9514:R3hcc1l	UTSW	19	42,518,764 (GRCm38)	unclassified	probably benign
R9664:R3hcc1l	UTSW	19	42,564,232 (GRCm38)	missense	probably benign	0.03
X0064:R3hcc1l	UTSW	19	42,583,545 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCCAGTTGCTGCATTTGG -3'
(R):5'- GGCTCACTTCCAACATGCTC -3'

Sequencing Primer
(F):5'- TGGTTTGATCCTTGTTCTAAAGC -3'
(R):5'- TGACATAGAAACGCAATGTCTACAG -3'

Posted On

2015-07-21