Mutagenetix > Incidental Mutations

Incidental Mutation 'R3500:0610037L13Rik'

273751

Institutional Source

Beutler Lab

Gene Symbol

0610037L13Rik

Ensembl Gene

ENSMUSG00000028608

Gene Name

RIKEN cDNA 0610037L13 gene

Synonyms

MMRRC Submission

040663-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107889813-107899384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107891513 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 83 (R83W)

Ref Sequence

ENSEMBL: ENSMUSP00000119565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000125107] [ENSMUST00000128474] [ENSMUST00000132417] [ENSMUST00000134254] [ENSMUST00000135454]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030347

Predicted Effect

probably benign
Transcript: ENSMUST00000030348

SMART Domains

Protein: ENSMUSP00000030348
Gene: ENSMUSG00000028609

Domain	Start	End	E-Value	Type
Pfam:Mago_nashi	5	146	7.5e-84	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106726
AA Change: R47W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	114	1.9e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106727
AA Change: R47W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	154	1.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119394
AA Change: R47W

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	146	8.1e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120473
AA Change: R47W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	138	2.7e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125107
AA Change: R83W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: R83W

Domain	Start	End	E-Value	Type
Pfam:DUF866	40	194	2.2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127715

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128474
AA Change: R48W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608
AA Change: R48W

Domain	Start	End	E-Value	Type
Pfam:DUF866	2	66	4.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132417
AA Change: R83W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608
AA Change: R83W

Domain	Start	End	E-Value	Type
Pfam:DUF866	37	98	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134254

SMART Domains

Protein: ENSMUSP00000119309
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	46	3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135454
AA Change: R47W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: R47W

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	160	1.7e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156888

Meta Mutation Damage Score

0.3397

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,447,066	D188G	probably benign	Het
Arl15	G	A	13: 113,967,692	E102K	probably damaging	Het
Atp10d	C	T	5: 72,245,723	R319C	probably damaging	Het
Cetn4	A	T	3: 37,309,960	F34I	probably benign	Het
Chd8	G	T	14: 52,205,653	H510N	probably benign	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Clcn1	T	C	6: 42,292,995	S251P	probably damaging	Het
Clstn3	A	T	6: 124,431,711	C881S	probably benign	Het
Cnot4	G	A	6: 35,080,141		probably benign	Het
Copg1	G	A	6: 87,895,923		probably benign	Het
Eftud2	A	G	11: 102,844,180	M631T	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Fancb	A	G	X: 164,996,108	T721A	probably damaging	Het
Fat2	A	G	11: 55,260,516	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,365,601	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184		probably benign	Het
Gata4	C	T	14: 63,200,533	G390S	possibly damaging	Het
Gm9396	C	A	3: 130,068,495		noncoding transcript	Het
Grid2	T	C	6: 63,503,399	S66P	probably damaging	Het
Hdac9	C	A	12: 34,437,353	M16I	probably benign	Het
Kmt2c	A	T	5: 25,299,479	D3610E	probably benign	Het
Lactb2	A	T	1: 13,660,449	M1K	probably null	Het
Ldhb	T	C	6: 142,501,447	D47G	probably damaging	Het
Map3k11	A	T	19: 5,690,247	M1L	probably benign	Het
Mecom	C	T	3: 29,980,912	R205H	probably damaging	Het
Mob1b	A	G	5: 88,749,620	D129G	probably benign	Het
Nbea	A	G	3: 55,681,010	V2436A	possibly damaging	Het
Neb	T	C	2: 52,325,785	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,212,860	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,707,940	R282*	probably null	Het
Olfr1189	A	G	2: 88,591,941	T46A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,157,059	G39R	probably damaging	Het
Olfr1317	T	C	2: 112,142,127	F61L	possibly damaging	Het
Olfr1426	A	G	19: 12,088,057	V245A	possibly damaging	Het
Olfr589	T	C	7: 103,155,090	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,497,479	L109*	probably null	Het
Plcg2	A	G	8: 117,612,978	M1043V	probably benign	Het
Podxl2	T	C	6: 88,842,918	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,881,512	T252A	probably benign	Het
Pramel6	A	G	2: 87,509,225	H111R	probably damaging	Het
Prr19	A	G	7: 25,303,267	E130G	probably damaging	Het
Rab44	C	T	17: 29,138,067	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,319,705	F95L	probably damaging	Het
Sdk1	G	T	5: 142,006,616		probably benign	Het
Tas2r122	T	A	6: 132,711,560	K123N	probably damaging	Het
Tbpl2	C	T	2: 24,087,139	R289Q	probably benign	Het
Trpm2	A	G	10: 77,932,302	F788L	probably benign	Het
Ttn	G	A	2: 76,730,284	L29258F	probably damaging	Het
Ttn	G	T	2: 76,761,165	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,713,170	I335T	possibly damaging	Het

Other mutations in 0610037L13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:0610037L13Rik	APN	4	107894868	splice site	probably benign
R0787:0610037L13Rik	UTSW	4	107890129	missense	probably damaging	1.00
R4778:0610037L13Rik	UTSW	4	107891998	missense	probably damaging	1.00
R5940:0610037L13Rik	UTSW	4	107893288	intron	probably benign
R6644:0610037L13Rik	UTSW	4	107894922	missense	probably damaging	0.99
R7164:0610037L13Rik	UTSW	4	107894890	missense	not run
R7535:0610037L13Rik	UTSW	4	107894900	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ATCGGCTCATGTCCCTATTG -3'
(R):5'- AAGTCCCTCTTGATTTTGAACTCTG -3'

Sequencing Primer
(F):5'- CACATTTGGGCTACACAGTG -3'
(R):5'- CACATTGGTGCTCTCTCAA -3'

Posted On

2015-04-02