Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Gm17654'

52644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17654

Ensembl Gene

ENSMUSG00000095743

Gene Name

predicted gene, 17654

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

43813141-43816606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43816455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 49 (H49Q)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000166110
AA Change: H49Q

SMART Domains

Protein: ENSMUSP00000130744
Gene: ENSMUSG00000095743
AA Change: H49Q

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,855 (GRCm39)	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,782,388 (GRCm39)	Y924H	possibly damaging	Het
Ash1l	T	G	3: 88,979,791 (GRCm39)	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpne6	T	C	14: 55,750,187 (GRCm39)	F106S	probably damaging	Het
Cysltr1	A	T	X: 105,622,342 (GRCm39)	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,473,263 (GRCm39)	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,779 (GRCm39)	L262H	probably damaging	Het
Gart	G	A	16: 91,419,895 (GRCm39)	R871C	probably damaging	Het
Get4	C	T	5: 139,238,277 (GRCm39)	R20C	probably damaging	Het
Gm13030	G	A	4: 138,600,869 (GRCm39)		probably benign	Het
Gpnmb	A	G	6: 49,032,593 (GRCm39)	I506V	probably benign	Het
Ist1	T	C	8: 110,409,243 (GRCm39)	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,583,192 (GRCm39)	D198N	probably damaging	Het
Kif5c	A	G	2: 49,584,828 (GRCm39)	I184V	possibly damaging	Het
Mink1	A	T	11: 70,494,307 (GRCm39)	M236L	probably benign	Het
Muc5ac	A	T	7: 141,361,210 (GRCm39)	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,567,083 (GRCm39)	E1326D	probably damaging	Het
Or10ak8	A	T	4: 118,774,091 (GRCm39)	M191K	possibly damaging	Het
Or51q1	A	T	7: 103,628,999 (GRCm39)	Y200F	probably benign	Het
Or5b3	T	C	19: 13,388,590 (GRCm39)	I219T	probably benign	Het
Patj	T	C	4: 98,385,210 (GRCm39)	S326P	possibly damaging	Het
Pdha2	T	C	3: 140,916,776 (GRCm39)	H244R	possibly damaging	Het
Pgap4	C	T	4: 49,586,860 (GRCm39)	V103M	possibly damaging	Het
Pkhd1	C	T	1: 20,604,754 (GRCm39)		probably benign	Het
Ptk7	A	T	17: 46,884,492 (GRCm39)	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866 (GRCm39)	G438D	probably damaging	Het
Rbm27	T	C	18: 42,452,879 (GRCm39)	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,619,553 (GRCm39)	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,222,696 (GRCm39)	Y353C	probably damaging	Het
Srcap	T	C	7: 127,159,064 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,771,834 (GRCm39)	H66R	probably benign	Het
Tlr7	T	A	X: 166,091,207 (GRCm39)	E93V	probably damaging	Het
Tmem156	A	G	5: 65,237,327 (GRCm39)	L76S	probably damaging	Het
Tomm70a	T	C	16: 56,972,975 (GRCm39)	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347 (GRCm39)	Y261C	possibly damaging	Het

Other mutations in Gm17654

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Gm17654	APN	14	43,813,331 (GRCm39)	missense	probably damaging	1.00
IGL02611:Gm17654	APN	14	43,816,462 (GRCm39)	missense	possibly damaging	0.58
IGL02750:Gm17654	APN	14	43,815,656 (GRCm39)	splice site	probably benign
R5213:Gm17654	UTSW	14	43,816,559 (GRCm39)	missense	probably damaging	0.98
R5504:Gm17654	UTSW	14	43,815,494 (GRCm39)	missense	unknown
R6340:Gm17654	UTSW	14	43,815,534 (GRCm39)	missense	unknown
R7054:Gm17654	UTSW	14	43,813,327 (GRCm39)	missense
R9624:Gm17654	UTSW	14	43,815,492 (GRCm39)	missense

Posted On

2013-06-21