Mutagenetix > Incidental Mutation

Incidental Mutation 'R9174:Gm14496'

696569

Institutional Source

Beutler Lab

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

MMRRC Submission

068977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 181642797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 823 (I823L)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

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

AlphaFold

K7N5U4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071760
AA Change: I823L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: I823L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap1	A	G	11: 88,725,991 (GRCm39)	Y737H	probably damaging	Het
Arap2	A	T	5: 62,855,606 (GRCm39)	V610E	probably damaging	Het
Arf1	G	A	11: 59,103,433 (GRCm39)	T158I	probably damaging	Het
Atat1	T	C	17: 36,220,032 (GRCm39)	K90R	probably benign	Het
Cfap70	C	A	14: 20,493,706 (GRCm39)	G132W	probably damaging	Het
Cpne9	T	A	6: 113,279,032 (GRCm39)	D475E	probably damaging	Het
Dapp1	T	C	3: 137,638,916 (GRCm39)	D270G	probably benign	Het
Dnajc21	A	T	15: 10,462,076 (GRCm39)	Y108*	probably null	Het
Etv4	A	G	11: 101,662,705 (GRCm39)		probably null	Het
Fes	C	A	7: 80,030,631 (GRCm39)	V555F	probably damaging	Het
H2-M9	A	C	17: 36,953,181 (GRCm39)	L42R	probably damaging	Het
Ifitm2	A	T	7: 140,535,013 (GRCm39)	I107N	probably damaging	Het
Impg1	T	C	9: 80,252,750 (GRCm39)	T477A	probably damaging	Het
Inca1	G	A	11: 70,580,732 (GRCm39)	P78S	possibly damaging	Het
Khk	A	G	5: 31,085,819 (GRCm39)	E126G	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Mars1	A	T	10: 127,135,237 (GRCm39)	I618N	probably damaging	Het
Mgl2	C	A	11: 70,026,606 (GRCm39)	F110L	probably benign	Het
Mon1b	A	G	8: 114,365,689 (GRCm39)	D339G	probably damaging	Het
Pfdn2	G	C	1: 171,184,164 (GRCm39)	E48Q	probably damaging	Het
Pilra	A	G	5: 137,833,898 (GRCm39)	I56T	probably damaging	Het
Ptpru	A	T	4: 131,535,746 (GRCm39)	N410K	probably damaging	Het
Sema3c	T	C	5: 17,868,039 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,295,893 (GRCm39)	E1052G	probably benign	Het
Stau1	A	G	2: 166,791,269 (GRCm39)	C495R	probably damaging	Het
Ubap1l	T	A	9: 65,284,289 (GRCm39)	H339Q	probably benign	Het
Urb2	A	G	8: 124,767,987 (GRCm39)	D1411G	possibly damaging	Het
Ush2a	T	A	1: 188,460,416 (GRCm39)	I2559N	probably damaging	Het
Vipas39	A	T	12: 87,305,885 (GRCm39)	S103T	possibly damaging	Het
Vrk1	G	A	12: 106,002,811 (GRCm39)	R3H	probably benign	Het
Wdr46	G	T	17: 34,167,668 (GRCm39)	R493L	possibly damaging	Het
Zbtb8a	T	C	4: 129,254,125 (GRCm39)	D123G	probably 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
IGL02933:Gm14496	APN	2	181,642,256 (GRCm39)	missense	probably benign	0.15
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTGGCTTTCCTGGCTAG -3'
(R):5'- GAAACCATTTCCAACCAATGTTTGG -3'

Sequencing Primer
(F):5'- GGAACCTTCCTGACAGATTCAATG -3'
(R):5'- CCTGGAACTCACTTTGTAGACTAGG -3'

Posted On

2022-02-07