Mutagenetix > Incidental Mutation

Incidental Mutation 'R4630:Rmi2'

349146

Institutional Source

Beutler Lab

Gene Symbol

Rmi2

Ensembl Gene

ENSMUSG00000037991

Gene Name

RecQ mediated genome instability 2

Synonyms

LOC381034, A630055G03Rik

MMRRC Submission

041895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4630 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

10652923-10661099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10704073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 138 (T138I)

Ref Sequence

ENSEMBL: ENSMUSP00000137986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181721]

AlphaFold

Q3UPE3

Predicted Effect

probably benign
Transcript: ENSMUST00000181721
AA Change: T138I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137986
Gene: ENSMUSG00000037991
AA Change: T138I

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	18	25	N/A	INTRINSIC
PDB:4DAY\|B	26	141	5e-37	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,622 (GRCm39)		probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
BC024139	T	G	15: 76,009,294 (GRCm39)	Q240P	probably benign	Het
Bckdha	A	T	7: 25,330,884 (GRCm39)	I44N	probably damaging	Het
Brpf1	T	C	6: 113,286,867 (GRCm39)	Y32H	probably damaging	Het
Catip	A	G	1: 74,408,072 (GRCm39)		probably benign	Het
Ccdc138	T	C	10: 58,409,477 (GRCm39)	L602P	probably damaging	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Comp	A	T	8: 70,827,032 (GRCm39)	I58F	possibly damaging	Het
Crygs	T	C	16: 22,624,268 (GRCm39)	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,512,235 (GRCm39)	R319*	probably null	Het
Eif3a	A	G	19: 60,758,366 (GRCm39)	I804T	unknown	Het
Eif3a	A	T	19: 60,766,424 (GRCm39)	H301Q	probably benign	Het
Elf3	A	T	1: 135,184,478 (GRCm39)		probably benign	Het
Fads2b	C	A	2: 85,348,990 (GRCm39)	G41*	probably null	Het
Gm10384	A	G	15: 36,872,017 (GRCm39)		noncoding transcript	Het
Gm11627	T	A	11: 102,469,657 (GRCm39)		probably benign	Het
Gpr183	A	T	14: 122,192,261 (GRCm39)	Y87N	probably damaging	Het
Gpr183	G	C	14: 122,192,262 (GRCm39)	Y86*	probably null	Het
Gpr26	T	C	7: 131,568,709 (GRCm39)	V18A	probably damaging	Het
Herc1	T	A	9: 66,340,996 (GRCm39)		probably null	Het
Hint2	C	T	4: 43,656,396 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,927,899 (GRCm39)	D837E	probably damaging	Het
Jmjd1c	C	A	10: 66,993,753 (GRCm39)	S78*	probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lama1	T	A	17: 68,101,295 (GRCm39)	D1929E	probably benign	Het
Macf1	T	C	4: 123,367,432 (GRCm39)	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,591,108 (GRCm39)	S182P	probably damaging	Het
Muc5b	A	T	7: 141,411,721 (GRCm39)	T1556S	unknown	Het
Myo1g	T	C	11: 6,469,047 (GRCm39)	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,156,196 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,744,257 (GRCm39)	D96G	possibly damaging	Het
Or10a48	T	C	7: 108,424,802 (GRCm39)	M135V	probably damaging	Het
Or1e17	T	C	11: 73,831,822 (GRCm39)	L250P	probably damaging	Het
Or6c212	A	G	10: 129,559,350 (GRCm39)	L21P	probably damaging	Het
Pacs1	C	T	19: 5,206,384 (GRCm39)		probably null	Het
Pgap4	C	G	4: 49,586,254 (GRCm39)	V305L	probably benign	Het
Pgm5	C	A	19: 24,812,110 (GRCm39)	G141*	probably null	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pld4	T	A	12: 112,731,498 (GRCm39)	V217D	probably damaging	Het
Pphln1-ps1	T	C	16: 13,495,278 (GRCm39)	S126P	probably damaging	Het
Ppp1r3c	T	C	19: 36,710,915 (GRCm39)	E285G	probably benign	Het
Pradc1	T	A	6: 85,424,275 (GRCm39)	M24L	possibly damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Rtkn	A	T	6: 83,129,163 (GRCm39)	K540*	probably null	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Setd4	A	G	16: 93,388,114 (GRCm39)	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,297,646 (GRCm39)	D208G	probably damaging	Het
Sult4a1	T	C	15: 83,989,779 (GRCm39)	T8A	possibly damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,757,477 (GRCm39)	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,393 (GRCm39)	L164P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trp53bp1	G	T	2: 121,038,368 (GRCm39)	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,665,389 (GRCm39)		probably benign	Het
Tyw5	T	A	1: 57,427,686 (GRCm39)	Q306L	probably damaging	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zar1	A	G	5: 72,738,249 (GRCm39)	V51A	probably benign	Het
Zbtb38	T	G	9: 96,570,904 (GRCm39)	N60T	probably damaging	Het
Zfp354a	T	C	11: 50,961,045 (GRCm39)	S417P	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,901,423 (GRCm39)	Q451*	probably null	Het
Zfp64	T	C	2: 168,768,463 (GRCm39)	N383S	possibly damaging	Het
Zfp687	A	T	3: 94,919,799 (GRCm39)		probably null	Het

Other mutations in Rmi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0827:Rmi2	UTSW	16	10,653,104 (GRCm39)	missense	probably damaging	1.00
R4656:Rmi2	UTSW	16	10,653,186 (GRCm39)	missense	probably damaging	0.96
R4840:Rmi2	UTSW	16	10,657,701 (GRCm39)	missense	probably damaging	0.98
R5152:Rmi2	UTSW	16	10,657,765 (GRCm39)	missense	probably damaging	1.00
R6185:Rmi2	UTSW	16	10,704,073 (GRCm39)	missense	probably benign	0.16
R9211:Rmi2	UTSW	16	10,657,743 (GRCm39)	missense	possibly damaging	0.52
R9257:Rmi2	UTSW	16	10,653,089 (GRCm39)	missense	probably benign	0.00
R9585:Rmi2	UTSW	16	10,703,983 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGATCTGTCCCACAAGCACAG -3'
(R):5'- CCAAGAACTCCAGCTGAGAG -3'

Sequencing Primer
(F):5'- GGTCACAGAAAGGCCACAGC -3'
(R):5'- ACTCCAGCTGAGAGGGCAG -3'

Posted On

2015-10-08