Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02933:Gm14496'

364169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02933

Quality Score

Status

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181642256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 642 (H642Q)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071760]

AlphaFold

K7N5U4

Predicted Effect

probably benign
Transcript: ENSMUST00000071760
AA Change: H642Q

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: H642Q

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	76	456	1.3e-30	PFAM
Pfam:NCD3G	508	562	1.9e-18	PFAM
Pfam:7tm_3	595	830	7.9e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000089788

SMART Domains

Protein: ENSMUSP00000087221
Gene: ENSMUSG00000053277

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	76	425	2.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184507

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	G	T	7: 44,012,436 (GRCm39)	S24Y	possibly damaging	Het
Adam15	T	C	3: 89,250,790 (GRCm39)	T609A	possibly damaging	Het
Ank1	C	T	8: 23,612,881 (GRCm39)	T1485I	possibly damaging	Het
Bbof1	A	G	12: 84,473,740 (GRCm39)	N357D	probably damaging	Het
Btn1a1	A	G	13: 23,644,697 (GRCm39)	F267S	possibly damaging	Het
C2cd2	A	T	16: 97,693,401 (GRCm39)	F157I	probably benign	Het
Cd55	T	C	1: 130,380,261 (GRCm39)	E239G	probably damaging	Het
Cnpy1	T	A	5: 28,412,119 (GRCm39)	H138L	probably benign	Het
Cpne4	T	C	9: 104,896,966 (GRCm39)	V373A	possibly damaging	Het
Dlg5	A	T	14: 24,208,567 (GRCm39)	S880T	probably benign	Het
Etv1	C	T	12: 38,831,832 (GRCm39)	T27I	probably benign	Het
Fam227b	T	A	2: 125,965,908 (GRCm39)		probably null	Het
Flcn	T	C	11: 59,694,583 (GRCm39)	S130G	probably damaging	Het
Flvcr2	T	C	12: 85,849,902 (GRCm39)		probably benign	Het
Git1	C	A	11: 77,391,902 (GRCm39)	H241Q	probably damaging	Het
Idh1	C	T	1: 65,201,072 (GRCm39)	S293N	probably damaging	Het
Itpr2	A	G	6: 146,214,402 (GRCm39)	S1449P	probably benign	Het
Mmel1	T	A	4: 154,968,087 (GRCm39)	L141Q	probably damaging	Het
Morn4	A	G	19: 42,064,661 (GRCm39)	I109T	probably benign	Het
Mrgprh	T	C	17: 13,096,596 (GRCm39)	Y279H	probably damaging	Het
Or1ak2	T	A	2: 36,827,310 (GRCm39)	Y60N	probably damaging	Het
Osbpl8	T	C	10: 111,117,991 (GRCm39)	I578T	probably damaging	Het
Reg2	A	G	6: 78,384,917 (GRCm39)	Y153C	probably damaging	Het
Sall2	T	C	14: 52,550,484 (GRCm39)	S902G	probably benign	Het
Sesn3	C	T	9: 14,232,504 (GRCm39)	T259M	probably damaging	Het
Traf1	C	A	2: 34,839,107 (GRCm39)	D73Y	possibly damaging	Het
Trnt1	G	A	6: 106,750,387 (GRCm39)	G97D	probably benign	Het
Ttll11	T	C	2: 35,869,422 (GRCm39)	H72R	probably benign	Het
Txndc12	T	C	4: 108,715,193 (GRCm39)		probably null	Het
Zan	C	A	5: 137,426,676 (GRCm39)	S2490I	unknown	Het
Zfp955a	T	C	17: 33,462,683 (GRCm39)		probably null	Het
Zfyve26	A	C	12: 79,326,854 (GRCm39)	S756R	possibly damaging	Het
Zmynd8	T	C	2: 165,670,238 (GRCm39)	N412S	possibly damaging	Het

Other mutations in Gm14496

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Gm14496	APN	2	181,636,814 (GRCm39)	missense	probably damaging	1.00
IGL01300:Gm14496	APN	2	181,642,753 (GRCm39)	missense	probably damaging	1.00
IGL01328:Gm14496	APN	2	181,637,673 (GRCm39)	missense	probably damaging	1.00
IGL01526:Gm14496	APN	2	181,637,458 (GRCm39)	missense	probably benign	0.12
IGL01576:Gm14496	APN	2	181,633,164 (GRCm39)	missense	possibly damaging	0.92
IGL01775:Gm14496	APN	2	181,642,125 (GRCm39)	missense	probably benign	0.00
IGL02020:Gm14496	APN	2	181,637,882 (GRCm39)	missense	possibly damaging	0.95
IGL02150:Gm14496	APN	2	181,633,140 (GRCm39)	missense	probably damaging	0.99
IGL02170:Gm14496	APN	2	181,638,144 (GRCm39)	missense	probably damaging	1.00
IGL02262:Gm14496	APN	2	181,637,805 (GRCm39)	missense	probably damaging	1.00
IGL02398:Gm14496	APN	2	181,637,963 (GRCm39)	missense	probably benign	0.09
IGL02414:Gm14496	APN	2	181,633,198 (GRCm39)	missense	probably benign	0.03
IGL02541:Gm14496	APN	2	181,642,186 (GRCm39)	missense	probably benign	0.29
IGL02741:Gm14496	APN	2	181,633,136 (GRCm39)	missense	probably benign
IGL03214:Gm14496	APN	2	181,642,329 (GRCm39)	missense	probably damaging	1.00
FR4342:Gm14496	UTSW	2	181,637,699 (GRCm39)	missense	probably benign	0.01
R0158:Gm14496	UTSW	2	181,639,206 (GRCm39)	missense	probably benign	0.07
R0271:Gm14496	UTSW	2	181,637,747 (GRCm39)	missense	probably benign	0.44
R0611:Gm14496	UTSW	2	181,636,904 (GRCm39)	missense	probably benign	0.00
R0833:Gm14496	UTSW	2	181,638,059 (GRCm39)	missense	probably damaging	0.99
R0834:Gm14496	UTSW	2	181,637,480 (GRCm39)	missense	probably benign	0.00
R0906:Gm14496	UTSW	2	181,642,308 (GRCm39)	missense	probably damaging	0.98
R1298:Gm14496	UTSW	2	181,637,885 (GRCm39)	missense	probably benign	0.39
R1500:Gm14496	UTSW	2	181,633,026 (GRCm39)	missense	probably benign	0.21
R1585:Gm14496	UTSW	2	181,638,002 (GRCm39)	missense	possibly damaging	0.79
R1610:Gm14496	UTSW	2	181,637,972 (GRCm39)	missense	probably benign	0.01
R1627:Gm14496	UTSW	2	181,640,571 (GRCm39)	missense	probably damaging	1.00
R1635:Gm14496	UTSW	2	181,642,837 (GRCm39)	missense	possibly damaging	0.88
R1663:Gm14496	UTSW	2	181,639,230 (GRCm39)	missense	probably benign	0.03
R1792:Gm14496	UTSW	2	181,637,946 (GRCm39)	missense	probably benign	0.00
R1888:Gm14496	UTSW	2	181,641,989 (GRCm39)	nonsense	probably null
R1888:Gm14496	UTSW	2	181,641,989 (GRCm39)	nonsense	probably null
R1922:Gm14496	UTSW	2	181,642,797 (GRCm39)	missense	probably benign	0.22
R2081:Gm14496	UTSW	2	181,642,272 (GRCm39)	missense	probably damaging	1.00
R2102:Gm14496	UTSW	2	181,633,127 (GRCm39)	missense	possibly damaging	0.88
R2176:Gm14496	UTSW	2	181,633,130 (GRCm39)	missense	probably benign
R4154:Gm14496	UTSW	2	181,636,872 (GRCm39)	missense	probably benign	0.01
R4789:Gm14496	UTSW	2	181,637,577 (GRCm39)	missense	possibly damaging	0.85
R4873:Gm14496	UTSW	2	181,639,226 (GRCm39)	missense	probably damaging	0.99
R4875:Gm14496	UTSW	2	181,639,226 (GRCm39)	missense	probably damaging	0.99
R5020:Gm14496	UTSW	2	181,633,152 (GRCm39)	missense	possibly damaging	0.67
R5354:Gm14496	UTSW	2	181,642,602 (GRCm39)	missense	probably damaging	1.00
R5361:Gm14496	UTSW	2	181,642,147 (GRCm39)	missense	probably benign	0.07
R5457:Gm14496	UTSW	2	181,639,401 (GRCm39)	missense	probably damaging	0.96
R5589:Gm14496	UTSW	2	181,637,674 (GRCm39)	nonsense	probably null
R5655:Gm14496	UTSW	2	181,637,975 (GRCm39)	missense	probably benign	0.06
R6007:Gm14496	UTSW	2	181,639,323 (GRCm39)	missense	probably benign	0.37
R6123:Gm14496	UTSW	2	181,633,020 (GRCm39)	start codon destroyed	probably null	1.00
R6159:Gm14496	UTSW	2	181,638,050 (GRCm39)	missense	probably benign	0.01
R6168:Gm14496	UTSW	2	181,642,750 (GRCm39)	missense	probably damaging	1.00
R6454:Gm14496	UTSW	2	181,638,015 (GRCm39)	missense	probably damaging	0.97
R6502:Gm14496	UTSW	2	181,642,386 (GRCm39)	missense	probably benign	0.01
R6649:Gm14496	UTSW	2	181,639,269 (GRCm39)	missense	possibly damaging	0.83
R6996:Gm14496	UTSW	2	181,637,997 (GRCm39)	missense	probably damaging	1.00
R7043:Gm14496	UTSW	2	181,642,120 (GRCm39)	missense	possibly damaging	0.70
R7317:Gm14496	UTSW	2	181,637,613 (GRCm39)	missense	possibly damaging	0.56
R7354:Gm14496	UTSW	2	181,642,479 (GRCm39)	missense	probably damaging	1.00
R7565:Gm14496	UTSW	2	181,642,630 (GRCm39)	missense	probably damaging	0.99
R7565:Gm14496	UTSW	2	181,633,050 (GRCm39)	missense	possibly damaging	0.84
R7669:Gm14496	UTSW	2	181,637,711 (GRCm39)	missense	possibly damaging	0.95
R7828:Gm14496	UTSW	2	181,633,171 (GRCm39)	nonsense	probably null
R7870:Gm14496	UTSW	2	181,637,906 (GRCm39)	missense	probably benign	0.09
R8006:Gm14496	UTSW	2	181,637,669 (GRCm39)	missense	probably benign	0.03
R8379:Gm14496	UTSW	2	181,642,275 (GRCm39)	missense	probably damaging	0.99
R9174:Gm14496	UTSW	2	181,642,797 (GRCm39)	missense	possibly damaging	0.95
R9416:Gm14496	UTSW	2	181,640,647 (GRCm39)	missense	probably damaging	1.00
R9429:Gm14496	UTSW	2	181,637,934 (GRCm39)	missense	possibly damaging	0.60
R9463:Gm14496	UTSW	2	181,642,256 (GRCm39)	missense	probably benign	0.15
R9499:Gm14496	UTSW	2	181,638,179 (GRCm39)	missense	probably benign	0.00
R9581:Gm14496	UTSW	2	181,642,047 (GRCm39)	missense	probably benign	0.10
X0058:Gm14496	UTSW	2	181,637,779 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18