Mutagenetix > Incidental Mutation

Incidental Mutation 'R1298:Gm14496'

158202

Institutional Source

Beutler Lab

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

MMRRC Submission

039364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181637885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 320 (F320L)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

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

AlphaFold

K7N5U4

Predicted Effect

probably benign
Transcript: ENSMUST00000071760
AA Change: F320L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: F320L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	G	6: 116,404,225 (GRCm39)	W145R	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Bbs4	A	T	9: 59,247,096 (GRCm39)	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593 (GRCm39)	V346A	probably benign	Het
Cdk18	A	C	1: 132,050,189 (GRCm39)		probably benign	Het
Cyp2j11	C	T	4: 96,195,497 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,136,118 (GRCm39)	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,852,752 (GRCm39)	E118G	probably benign	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Eif1ad5	T	A	12: 87,946,853 (GRCm39)	D98E	probably benign	Het
Gsdmc3	A	T	15: 63,732,130 (GRCm39)	L299M	probably damaging	Het
H6pd	T	C	4: 150,066,971 (GRCm39)	I472V	probably benign	Het
Hao2	G	T	3: 98,790,985 (GRCm39)	T63K	possibly damaging	Het
Jag2	C	T	12: 112,879,939 (GRCm39)		probably benign	Het
Mapre3	A	G	5: 31,022,211 (GRCm39)	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,393,334 (GRCm39)	S2966P	probably damaging	Het
Nsd3	T	A	8: 26,169,952 (GRCm39)	V696E	possibly damaging	Het
Obscn	A	G	11: 58,945,723 (GRCm39)	Y4163H	possibly damaging	Het
Or11h4b	A	T	14: 50,918,337 (GRCm39)	Y251*	probably null	Het
Or12e8	G	A	2: 87,188,414 (GRCm39)	A209T	probably benign	Het
Or6c3	G	T	10: 129,308,933 (GRCm39)	C124F	probably damaging	Het
Pde2a	A	G	7: 101,156,409 (GRCm39)	E607G	probably benign	Het
Pinlyp	T	A	7: 24,244,391 (GRCm39)	D51V	probably damaging	Het
Rcbtb2	T	A	14: 73,399,828 (GRCm39)	I87N	probably damaging	Het
Sfswap	A	G	5: 129,618,442 (GRCm39)	I459V	probably benign	Het
Slitrk6	T	C	14: 110,989,297 (GRCm39)	N137D	possibly damaging	Het
Smg1	A	T	7: 117,767,434 (GRCm39)		probably benign	Het
Sobp	T	A	10: 42,898,331 (GRCm39)	H418L	probably damaging	Het
Spock1	A	C	13: 57,660,563 (GRCm39)	D180E	probably benign	Het
Upk3a	G	A	15: 84,904,752 (GRCm39)	V167I	probably benign	Het
Vmn1r180	T	C	7: 23,652,572 (GRCm39)	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,396,775 (GRCm39)	E149G	probably benign	Het
Zgrf1	T	C	3: 127,377,538 (GRCm39)	C44R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GATAGGTTGCCCCATGTCCATCAG -3'
(R):5'- GAGCCATGTCATATTTGTGCAGTGC -3'

Sequencing Primer
(F):5'- GACAACCAGGGTATTCAGTTTCTC -3'
(R):5'- AGTGCTGTCCATTCCAATGTG -3'

Posted On

2014-02-18