Mutagenetix > Incidental Mutation

Incidental Mutation 'R8393:R3hcc1'

647488

Institutional Source

Beutler Lab

Gene Symbol

R3hcc1

Ensembl Gene

ENSMUSG00000034194

Gene Name

R3H domain and coiled-coil containing 1

Synonyms

1700020M16Rik

MMRRC Submission

067811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69934756-69945033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69942890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 229 (Q229R)

Ref Sequence

ENSEMBL: ENSMUSP00000113450 (fasta)

Gene Model

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

AlphaFold

Q8BSI6

Predicted Effect

probably benign
Transcript: ENSMUST00000118374
AA Change: Q229R

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: Q229R

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 benign
Transcript: ENSMUST00000121142
AA Change: Q229R

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: Q229R

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,617,390 (GRCm39)	T239A	probably benign	Het
Adgrg7	A	G	16: 56,582,477 (GRCm39)	S258P	probably damaging	Het
Capn10	T	A	1: 92,871,130 (GRCm39)	D313E	probably benign	Het
Caprin2	A	G	6: 148,770,650 (GRCm39)	V448A	probably benign	Het
Casr	A	G	16: 36,330,566 (GRCm39)	V256A	probably benign	Het
Cped1	A	G	6: 22,222,465 (GRCm39)	T742A	possibly damaging	Het
Cyp2c39	G	T	19: 39,525,255 (GRCm39)	R186L	possibly damaging	Het
Dazl	A	T	17: 50,588,294 (GRCm39)	S294T	probably benign	Het
Dnah17	C	A	11: 117,947,855 (GRCm39)	V2982F	probably damaging	Het
Enpp3	C	A	10: 24,702,139 (GRCm39)	C71F	probably damaging	Het
Fam234a	A	G	17: 26,437,149 (GRCm39)	C177R	probably damaging	Het
Fbxl5	A	C	5: 43,925,433 (GRCm39)	Y186D	possibly damaging	Het
Fbxo43	T	C	15: 36,162,494 (GRCm39)	T238A	probably benign	Het
Fcgbp	A	G	7: 27,806,815 (GRCm39)	H2261R	probably benign	Het
Gm20939	C	T	17: 95,183,207 (GRCm39)	H148Y	probably damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Gpr45	C	A	1: 43,071,395 (GRCm39)	H13N	probably benign	Het
Irf4	A	G	13: 30,947,610 (GRCm39)	D438G	probably damaging	Het
Kcnk1	T	C	8: 126,751,964 (GRCm39)	V190A	probably benign	Het
Klre1	A	T	6: 129,557,025 (GRCm39)	K42N	probably damaging	Het
Lmbrd2	C	T	15: 9,178,437 (GRCm39)	T499M	probably damaging	Het
Lrrc14	G	T	15: 76,598,398 (GRCm39)	G345C	probably damaging	Het
Matn2	A	G	15: 34,355,748 (GRCm39)	H251R	possibly damaging	Het
Mpnd	A	G	17: 56,323,568 (GRCm39)	E477G	probably damaging	Het
Muc17	C	T	5: 137,171,179 (GRCm39)	V151I		Het
Nckap5l	A	C	15: 99,325,050 (GRCm39)	C484W	probably damaging	Het
Npas1	C	T	7: 16,195,266 (GRCm39)	S354N	probably damaging	Het
Or1e25	T	C	11: 73,494,261 (GRCm39)	L285P	probably damaging	Het
Or4k2	C	A	14: 50,424,342 (GRCm39)	E112*	probably null	Het
Or52ab2	A	T	7: 102,969,668 (GRCm39)	I17F		Het
Or52e3	T	C	7: 102,869,399 (GRCm39)	V158A	probably benign	Het
Or5w11	T	C	2: 87,459,197 (GRCm39)	L14P	probably damaging	Het
Or6c65	G	T	10: 129,604,304 (GRCm39)	*313L	probably null	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Pabpc6	G	A	17: 9,887,435 (GRCm39)	P372L	probably damaging	Het
Pkd1	A	G	17: 24,791,621 (GRCm39)	N1103D	probably damaging	Het
Prelid2	C	T	18: 42,014,313 (GRCm39)	C171Y	probably benign	Het
Rapgef6	T	C	11: 54,578,487 (GRCm39)	V1003A	probably benign	Het
Rbp3	T	A	14: 33,678,156 (GRCm39)	H701Q	possibly damaging	Het
Resf1	A	T	6: 149,229,998 (GRCm39)	T1015S	possibly damaging	Het
Rmdn2	T	C	17: 79,975,459 (GRCm39)		probably null	Het
Robo2	A	T	16: 73,775,382 (GRCm39)	W451R	probably damaging	Het
Sacs	T	A	14: 61,410,655 (GRCm39)	M1K	probably null	Het
Senp2	G	A	16: 21,850,864 (GRCm39)	G294R	probably damaging	Het
Setdb2	T	A	14: 59,650,180 (GRCm39)	H478L	probably benign	Het
Slc12a4	G	T	8: 106,678,451 (GRCm39)	A295E	probably damaging	Het
Slc12a9	C	T	5: 137,319,698 (GRCm39)	V606M	probably damaging	Het
Slc25a30	T	C	14: 76,012,451 (GRCm39)	K66E	probably benign	Het
Slc39a6	T	C	18: 24,732,331 (GRCm39)	E319G	possibly damaging	Het
Sorbs3	T	A	14: 70,422,360 (GRCm39)	T617S	probably benign	Het
Speer4a3	A	T	5: 26,158,076 (GRCm39)	V92E	probably damaging	Het
Spef2	T	G	15: 9,676,615 (GRCm39)	D652A	probably benign	Het
Stag3	T	C	5: 138,295,017 (GRCm39)	M347T	probably damaging	Het
Tecpr2	A	T	12: 110,911,191 (GRCm39)	D1076V	probably damaging	Het
Tor2a	G	A	2: 32,651,648 (GRCm39)	V288I	probably benign	Het
Usp30	C	T	5: 114,259,826 (GRCm39)	R511*	probably null	Het
Vezt	T	C	10: 93,832,704 (GRCm39)	T236A	probably damaging	Het
Zmynd12	A	T	4: 119,305,352 (GRCm39)	D264V	probably damaging	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
R5159:R3hcc1	UTSW	14	69,935,053 (GRCm39)	critical splice acceptor site	probably null
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
Z1177:R3hcc1	UTSW	14	69,942,776 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AAATCACCGTGGTCAGCATCG -3'
(R):5'- AGCTGGTGCAGTGTCAGAAG -3'

Sequencing Primer
(F):5'- TGGTCAGCATCGGCCTCATC -3'
(R):5'- TGCAGTGTCAGAAGAAGAGCC -3'

Posted On

2020-09-02