Mutagenetix > Incidental Mutation

Incidental Mutation 'R6139:6030468B19Rik'

488500

Institutional Source

Beutler Lab

Gene Symbol

6030468B19Rik

Ensembl Gene

ENSMUSG00000025573

Gene Name

RIKEN cDNA 6030468B19 gene

Synonyms

MMRRC Submission

044286-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117688486-117698127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117697150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000101938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000106331] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000177131] [ENSMUST00000177241]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026649

SMART Domains

Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	165	1.1e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106331
AA Change: T250A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101938
Gene: ENSMUSG00000025573
AA Change: T250A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ig_3	31	100	6.1e-5	PFAM
Pfam:Ig_3	120	195	1.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120928

SMART Domains

Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	21	135	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132298

SMART Domains

Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175737

SMART Domains

Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:MARVEL	18	121	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177131

SMART Domains

Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	162	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177241

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,350,713 (GRCm39)	I1074T	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Aebp1	A	G	11: 5,821,842 (GRCm39)	D747G	probably damaging	Het
Antxr2	A	C	5: 98,125,565 (GRCm39)		probably null	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Asap1	T	A	15: 64,038,388 (GRCm39)	I223F	possibly damaging	Het
C2cd5	A	C	6: 142,980,784 (GRCm39)	D669E	probably damaging	Het
Casz1	C	T	4: 149,036,154 (GRCm39)	T1472M	probably damaging	Het
Catsper4	A	G	4: 133,945,177 (GRCm39)	L154P	probably damaging	Het
Cep350	T	C	1: 155,829,025 (GRCm39)	E293G	probably benign	Het
Cma1	T	A	14: 56,180,157 (GRCm39)		probably null	Het
Ddx42	C	T	11: 106,130,843 (GRCm39)	A439V	probably damaging	Het
Disp2	T	A	2: 118,621,143 (GRCm39)	L625Q	probably damaging	Het
Dnah1	T	C	14: 31,007,984 (GRCm39)	D2141G	probably benign	Het
Dsp	T	C	13: 38,376,382 (GRCm39)	I1389T	probably damaging	Het
Fam81a	A	T	9: 70,010,100 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,821,388 (GRCm39)	D5707G	possibly damaging	Het
Gcnt4	G	A	13: 97,083,360 (GRCm39)	V219I	probably benign	Het
Gk2	A	G	5: 97,604,139 (GRCm39)	V233A	probably benign	Het
Grm1	T	C	10: 10,622,075 (GRCm39)		probably benign	Het
Gsap	T	A	5: 21,486,538 (GRCm39)	V649D	probably damaging	Het
Kif1b	G	A	4: 149,321,989 (GRCm39)	H977Y	possibly damaging	Het
Ktn1	T	A	14: 47,963,672 (GRCm39)		probably null	Het
Lgals12	T	A	19: 7,581,742 (GRCm39)	T29S	probably benign	Het
Me3	G	T	7: 89,282,108 (GRCm39)		probably benign	Het
Mgst3	T	G	1: 167,205,874 (GRCm39)	K35T	possibly damaging	Het
Mtmr9	T	C	14: 63,767,227 (GRCm39)	R354G	probably benign	Het
Myh11	T	C	16: 14,033,738 (GRCm39)	E1059G	probably damaging	Het
Nr4a2	T	A	2: 56,998,701 (GRCm39)	H408L	probably damaging	Het
Or56b35	A	T	7: 104,963,453 (GRCm39)	T81S	probably damaging	Het
Or5ak23	A	T	2: 85,244,690 (GRCm39)	F178I	probably damaging	Het
Pds5b	T	A	5: 150,724,242 (GRCm39)	L1275Q	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pop1	T	A	15: 34,529,204 (GRCm39)	C745S	probably benign	Het
Ptpn14	T	G	1: 189,583,362 (GRCm39)	S736R	probably benign	Het
Rdh9	A	T	10: 127,612,606 (GRCm39)	T85S	possibly damaging	Het
Rnf223	T	C	4: 156,217,260 (GRCm39)	C212R	probably damaging	Het
Rnf39	A	G	17: 37,254,230 (GRCm39)	E84G	probably damaging	Het
Sfmbt1	T	A	14: 30,533,375 (GRCm39)	V584D	probably damaging	Het
Slc12a5	T	A	2: 164,834,231 (GRCm39)	S728T	probably damaging	Het
Slc16a12	T	A	19: 34,648,295 (GRCm39)		probably null	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
St7	T	C	6: 17,694,353 (GRCm39)	L48P	probably damaging	Het
Thsd7a	T	C	6: 12,379,572 (GRCm39)	N951D	possibly damaging	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Ugt2b36	A	T	5: 87,240,030 (GRCm39)	D118E	probably benign	Het
Vmn2r7	G	A	3: 64,623,339 (GRCm39)	T327I	probably damaging	Het
Wdr70	T	C	15: 8,108,735 (GRCm39)	D137G	probably benign	Het
Wrn	A	T	8: 33,843,360 (GRCm39)	M14K	probably damaging	Het
Xpot	T	A	10: 121,447,613 (GRCm39)	E283V	probably benign	Het

Other mutations in 6030468B19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02168:6030468B19Rik	APN	11	117,689,244 (GRCm39)	splice site	probably benign
IGL03388:6030468B19Rik	APN	11	117,693,596 (GRCm39)	splice site	probably benign
PIT4434001:6030468B19Rik	UTSW	11	117,696,869 (GRCm39)	missense	probably benign	0.01
R0477:6030468B19Rik	UTSW	11	117,693,787 (GRCm39)	missense	probably benign	0.00
R3824:6030468B19Rik	UTSW	11	117,693,739 (GRCm39)	missense	probably damaging	0.99
R3825:6030468B19Rik	UTSW	11	117,693,739 (GRCm39)	missense	probably damaging	0.99
R4114:6030468B19Rik	UTSW	11	117,693,793 (GRCm39)	missense	probably damaging	1.00
R4283:6030468B19Rik	UTSW	11	117,697,087 (GRCm39)	missense	probably benign	0.01
R4779:6030468B19Rik	UTSW	11	117,696,834 (GRCm39)	missense	probably benign	0.14
R4916:6030468B19Rik	UTSW	11	117,697,092 (GRCm39)	nonsense	probably null
R5068:6030468B19Rik	UTSW	11	117,693,701 (GRCm39)	missense	possibly damaging	0.85
R5725:6030468B19Rik	UTSW	11	117,696,883 (GRCm39)	missense	probably damaging	0.98
R6992:6030468B19Rik	UTSW	11	117,688,594 (GRCm39)	start codon destroyed	probably null
R7157:6030468B19Rik	UTSW	11	117,693,780 (GRCm39)	missense	probably damaging	0.98
R8757:6030468B19Rik	UTSW	11	117,697,112 (GRCm39)	missense	probably benign	0.01
R8759:6030468B19Rik	UTSW	11	117,697,112 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAAAACGATGTCGGTGTGG -3'
(R):5'- GGAACTTGCTAGATACCATAGGC -3'

Sequencing Primer
(F):5'- TGAATCTGGCCACTGCG -3'
(R):5'- ACTTGCTAGATACCATAGGCCTTTGG -3'

Posted On

2017-10-10