Mutagenetix > Incidental Mutations

Incidental Mutation 'R6644:0610037L13Rik'

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525990

Institutional Source

Beutler Lab

Gene Symbol

0610037L13Rik

Ensembl Gene

ENSMUSG00000028608

Gene Name

RIKEN cDNA 0610037L13 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107889813-107899384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107894922 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 130 (I130S)

Ref Sequence

ENSEMBL: ENSMUSP00000114234 (fasta)

Gene Model

predicted gene model for transcript(s): [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: ENSMUST00000106726

SMART Domains

Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106727
AA Change: I130S

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

SMART Domains

Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: I130S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119394
AA Change: I130S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: I130S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120473
AA Change: I130S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: I130S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125107
AA Change: I166S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: I166S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127715

Predicted Effect

probably benign
Transcript: ENSMUST00000128474

SMART Domains

Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132417

SMART Domains

Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134254
AA Change: I31S

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119309
Gene: ENSMUSG00000028608
AA Change: I31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135454
AA Change: I130S

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

SMART Domains

Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: I130S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156888

Meta Mutation Damage Score

0.4857

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 80,008,764	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,444,273	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,668,552	V772M	possibly damaging	Het
Apob	A	G	12: 8,009,077	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,171,793		probably null	Het
Cabp7	C	T	11: 4,740,396	V76I	probably benign	Het
Cbr3	A	G	16: 93,690,511	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,122,069	Q58*	probably null	Het
Cryba4	T	C	5: 112,246,762	D167G	probably damaging	Het
Dner	T	C	1: 84,395,707	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,329,873	I343V	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam71d	T	A	12: 78,715,286	D241E	probably damaging	Het
Fbxw17	G	A	13: 50,423,219	R49Q	probably damaging	Het
Gm10332	T	A	14: 54,820,159	F59I	probably damaging	Het
Gm6803	A	G	12: 88,018,690	F28L	probably benign	Het
Gm8765	A	G	13: 50,702,035	T570A	possibly damaging	Het
Gnai3	A	G	3: 108,123,536		probably null	Het
Helz	T	A	11: 107,632,261	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 63,018,893		probably benign	Het
Ifi211	C	T	1: 173,905,552	C181Y	probably benign	Het
Immp1l	A	G	2: 105,937,045	K83R	probably damaging	Het
Itga6	G	A	2: 71,841,124	G740R	probably damaging	Het
Klhl1	T	C	14: 96,517,918	T134A	probably benign	Het
Klhl7	A	G	5: 24,149,246	D353G	probably damaging	Het
Map3k1	A	G	13: 111,752,449	S1325P	probably benign	Het
Map3k4	A	G	17: 12,232,410		probably null	Het
Meioc	G	A	11: 102,668,460		probably null	Het
Mfap5	T	C	6: 122,520,596	F26L	probably damaging	Het
Myo5a	A	G	9: 75,146,967	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,214,013	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,214,014	L1266M	probably damaging	Het
Olfr1221	A	G	2: 89,111,981	M177T	probably benign	Het
Olfr612	C	A	7: 103,539,058	V59F	possibly damaging	Het
Pbld1	T	A	10: 63,075,063	S233T	probably damaging	Het
Phf12	A	G	11: 78,026,092	*789W	probably null	Het
Sf3b2	A	T	19: 5,279,964		probably null	Het
Slc23a3	A	G	1: 75,128,547	I459T	probably damaging	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stard9	A	C	2: 120,695,772	M837L	probably benign	Het
Stx5a	A	T	19: 8,755,248		probably benign	Het
Tmc7	A	G	7: 118,538,162	V719A	probably benign	Het
Trank1	T	A	9: 111,364,834	I642K	possibly damaging	Het
Trim34a	T	C	7: 104,261,037	Y349H	probably damaging	Het
Uba7	A	G	9: 107,981,472	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,256,700	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,744,919	V343A	possibly damaging	Het
Zbtb37	G	A	1: 161,032,073	Q221*	probably null	Het
Zfp119b	T	C	17: 55,939,148	N346S	probably benign	Het
Zfp708	G	T	13: 67,070,721	T358K	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
horribilis	UTSW	4	107891998	missense	probably damaging	1.00
R0787:0610037L13Rik	UTSW	4	107890129	missense	probably damaging	1.00
R3500:0610037L13Rik	UTSW	4	107891513	missense	probably damaging	1.00
R4778:0610037L13Rik	UTSW	4	107891998	missense	probably damaging	1.00
R5940:0610037L13Rik	UTSW	4	107893288	intron	probably benign
R7164:0610037L13Rik	UTSW	4	107894890	missense	not run
R7535:0610037L13Rik	UTSW	4	107894900	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GTGCCGAGTAAGTTGGGAAC -3'
(R):5'- TTCACAGGTCCTCCTCAGAACC -3'

Sequencing Primer
(F):5'- TTTGCTAGGAAGAGCAGC -3'
(R):5'- AGAACCCTGGCCTGCTAGAG -3'

Posted On

2018-06-22