Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:4930447A16Rik'

526296

Institutional Source

Beutler Lab

Gene Symbol

4930447A16Rik

Ensembl Gene

ENSMUSG00000022288

Gene Name

RIKEN cDNA 4930447A16 gene

Synonyms

MMRRC Submission

044696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37425835-37440897 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 37425961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 34 (Q34*)

Ref Sequence

ENSEMBL: ENSMUSP00000022897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000153775] [ENSMUST00000168992]

AlphaFold

Q9D5F6

Predicted Effect

probably null
Transcript: ENSMUST00000022897
AA Change: Q34*

Predicted Effect

probably benign
Transcript: ENSMUST00000090150

SMART Domains

Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116445

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119730

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120559

Predicted Effect

probably benign
Transcript: ENSMUST00000120746

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123777

Predicted Effect

probably benign
Transcript: ENSMUST00000148652

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
Pfam:EF-hand_5	149	163	1.2e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150453

SMART Domains

Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	3	88	3.9e-8	PFAM
Pfam:EF-hand_8	39	88	8.2e-8	PFAM
Pfam:EF-hand_1	64	88	5e-8	PFAM
Pfam:EF-hand_6	64	88	1.6e-6	PFAM
Pfam:EF-hand_5	65	86	2.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153775

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	174	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168992

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359

Domain	Start	End	E-Value	Type
EFh	64	92	4.19e-4	SMART
EFh	100	128	4.7e-7	SMART
EFh	148	176	1.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128804

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,722,412 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Chst13	G	T	6: 90,286,588 (GRCm39)	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or1e35	A	G	11: 73,797,629 (GRCm39)	S230P	possibly damaging	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pigs	A	G	11: 78,230,190 (GRCm39)	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Ppard	G	T	17: 28,516,093 (GRCm39)	E106*	probably null	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	possibly damaging	Het

Other mutations in 4930447A16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02163:4930447A16Rik	APN	15	37,439,852 (GRCm39)	intron	probably benign
IGL02639:4930447A16Rik	APN	15	37,430,048 (GRCm39)	nonsense	probably null
R0569:4930447A16Rik	UTSW	15	37,425,863 (GRCm39)	start codon destroyed	probably null
R1596:4930447A16Rik	UTSW	15	37,426,018 (GRCm39)	intron	probably benign
R1728:4930447A16Rik	UTSW	15	37,439,844 (GRCm39)	intron	probably benign
R1729:4930447A16Rik	UTSW	15	37,439,844 (GRCm39)	intron	probably benign
R1967:4930447A16Rik	UTSW	15	37,439,842 (GRCm39)	intron	probably benign
R2018:4930447A16Rik	UTSW	15	37,440,742 (GRCm39)	intron	probably benign
R4811:4930447A16Rik	UTSW	15	37,425,952 (GRCm39)	intron	probably benign
R5760:4930447A16Rik	UTSW	15	37,439,835 (GRCm39)	intron	probably benign
R6604:4930447A16Rik	UTSW	15	37,439,823 (GRCm39)	intron	probably benign
R8544:4930447A16Rik	UTSW	15	37,425,979 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGAAACCAGGCTCTTCCC -3'
(R):5'- GCTACTTAAGAAAACCTGCTTACAGTG -3'

Sequencing Primer
(F):5'- AGGCTCTTCCCAAGCCCTG -3'
(R):5'- AACCTGCTTACAGTGGTACAG -3'

Posted On

2018-06-22