Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01701:4930568D16Rik'

104459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930568D16Rik

Ensembl Gene

ENSMUSG00000026882

Gene Name

RIKEN cDNA 4930568D16 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL01701

Quality Score

Status

Chromosome

Chromosomal Location

35244230-35257741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35254776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 36 (Y36H)

Ref Sequence

ENSEMBL: ENSMUSP00000028243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028243]

AlphaFold

A2AUQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028243
AA Change: Y36H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: Y36H

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	319	1.3e-101	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,750 (GRCm39)	D5141G	possibly damaging	Het
Adk	G	A	14: 21,153,922 (GRCm39)	E42K	probably damaging	Het
Akap1	C	A	11: 88,735,958 (GRCm39)	V268L	probably benign	Het
Arl6ip5	A	G	6: 97,187,774 (GRCm39)		probably benign	Het
Atrx	A	G	X: 104,874,526 (GRCm39)	S1945P	probably damaging	Het
Clec5a	G	A	6: 40,559,160 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,232,741 (GRCm39)		probably benign	Het
Cul3	G	T	1: 80,255,140 (GRCm39)	H6Q	probably damaging	Het
Fn1	T	C	1: 71,669,012 (GRCm39)		probably benign	Het
Furin	C	A	7: 80,042,240 (GRCm39)	V452F	probably benign	Het
Furin	T	A	7: 80,040,507 (GRCm39)	D777V	probably benign	Het
Gm57859	T	C	11: 113,579,927 (GRCm39)	F441L	probably benign	Het
Hmgb4	G	A	4: 128,154,166 (GRCm39)	T134I	probably benign	Het
Ift74	A	T	4: 94,550,895 (GRCm39)	E349V	possibly damaging	Het
Igkv6-23	A	T	6: 70,237,880 (GRCm39)	L13Q	probably damaging	Het
Lekr1	A	T	3: 65,591,425 (GRCm39)	Y54F	probably damaging	Het
Lman1	A	T	18: 66,127,921 (GRCm39)	V241E	possibly damaging	Het
Mat1a	T	A	14: 40,836,772 (GRCm39)	D167E	probably benign	Het
Myl6	G	A	10: 128,327,966 (GRCm39)	A130V	probably damaging	Het
Myo9a	T	C	9: 59,791,877 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,347,223 (GRCm39)	W12R	probably damaging	Het
Nr1h4	T	C	10: 89,314,669 (GRCm39)	R276G	probably benign	Het
Or4f61	T	C	2: 111,922,851 (GRCm39)	N65S	possibly damaging	Het
Or5m13b	C	A	2: 85,754,421 (GRCm39)	Q270K	possibly damaging	Het
Pag1	C	T	3: 9,758,886 (GRCm39)	E411K	probably damaging	Het
Prorp	T	G	12: 55,355,660 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,082,339 (GRCm39)	N1422D	probably damaging	Het
Ryr1	C	T	7: 28,759,235 (GRCm39)	R3345Q	probably damaging	Het
Slc12a8	T	C	16: 33,361,280 (GRCm39)	L85P	probably damaging	Het
Slc22a17	T	C	14: 55,144,718 (GRCm39)	H565R	probably damaging	Het
Slc46a3	T	C	5: 147,823,108 (GRCm39)	T245A	probably benign	Het
Thsd7b	A	G	1: 129,358,665 (GRCm39)	H33R	probably benign	Het
Tmem131	A	G	1: 36,847,318 (GRCm39)	V1260A	probably benign	Het
Tmem30a	A	T	9: 79,681,461 (GRCm39)	F236Y	probably damaging	Het
Trim30b	A	C	7: 104,015,258 (GRCm39)	Y43*	probably null	Het
Trpc3	T	C	3: 36,725,743 (GRCm39)	K78E	possibly damaging	Het
Twist2	A	T	1: 91,729,736 (GRCm39)	M130L	probably benign	Het
Ube2q2l	T	A	6: 136,377,804 (GRCm39)	Y342F	probably damaging	Het

Other mutations in 4930568D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:4930568D16Rik	APN	2	35,245,640 (GRCm39)	missense	probably benign	0.36
IGL02049:4930568D16Rik	APN	2	35,254,801 (GRCm39)	missense	probably benign	0.03
R0112:4930568D16Rik	UTSW	2	35,244,815 (GRCm39)	missense	probably benign	0.06
R1778:4930568D16Rik	UTSW	2	35,244,995 (GRCm39)	missense	probably damaging	1.00
R2398:4930568D16Rik	UTSW	2	35,244,872 (GRCm39)	missense	possibly damaging	0.86
R3846:4930568D16Rik	UTSW	2	35,244,570 (GRCm39)	missense	probably damaging	1.00
R4648:4930568D16Rik	UTSW	2	35,244,458 (GRCm39)	missense	probably damaging	1.00
R5239:4930568D16Rik	UTSW	2	35,244,848 (GRCm39)	missense	probably benign	0.38
R5418:4930568D16Rik	UTSW	2	35,244,738 (GRCm39)	missense	probably damaging	1.00
R5889:4930568D16Rik	UTSW	2	35,244,461 (GRCm39)	missense	probably damaging	1.00
R5951:4930568D16Rik	UTSW	2	35,244,811 (GRCm39)	missense	probably damaging	1.00
R6014:4930568D16Rik	UTSW	2	35,244,881 (GRCm39)	missense	probably benign	0.00
R6091:4930568D16Rik	UTSW	2	35,252,348 (GRCm39)	missense	possibly damaging	0.77
R7363:4930568D16Rik	UTSW	2	35,244,782 (GRCm39)	missense	probably damaging	1.00
R7773:4930568D16Rik	UTSW	2	35,244,606 (GRCm39)	missense	probably damaging	1.00
R8776:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R9108:4930568D16Rik	UTSW	2	35,244,942 (GRCm39)	missense	probably damaging	1.00
R9367:4930568D16Rik	UTSW	2	35,244,939 (GRCm39)	missense	probably benign	0.03
R9566:4930568D16Rik	UTSW	2	35,244,645 (GRCm39)	nonsense	probably null
R9673:4930568D16Rik	UTSW	2	35,244,399 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21