Mutagenetix > Incidental Mutation

Incidental Mutation 'R1627:Gm14496'

172543

Institutional Source

Beutler Lab

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

MMRRC Submission

039664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181640571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 513 (S513G)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

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

AlphaFold

K7N5U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000071760
AA Change: S513G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: S513G

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

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,083,880 (GRCm39)	M630T	probably benign	Het
Anpep	T	C	7: 79,491,759 (GRCm39)	I81V	probably benign	Het
Bub1	A	G	2: 127,650,933 (GRCm39)	S627P	probably benign	Het
C1s1	T	A	6: 124,514,439 (GRCm39)	N139I	probably damaging	Het
Car6	A	T	4: 150,277,035 (GRCm39)	V152D	probably damaging	Het
Cdh19	C	A	1: 110,847,375 (GRCm39)	M411I	probably benign	Het
Cep95	A	G	11: 106,700,531 (GRCm39)	E322G	probably damaging	Het
Chek1	C	A	9: 36,625,737 (GRCm39)	V303L	probably benign	Het
Dctn1	T	A	6: 83,172,064 (GRCm39)	I818N	probably damaging	Het
Dscaml1	T	C	9: 45,664,445 (GRCm39)	S2107P	probably damaging	Het
Dusp14	A	G	11: 83,939,597 (GRCm39)	I148T	probably damaging	Het
Eps15	A	G	4: 109,227,754 (GRCm39)	D645G	probably damaging	Het
Etl4	A	G	2: 20,806,390 (GRCm39)	N1153S	possibly damaging	Het
Fer1l6	A	G	15: 58,513,728 (GRCm39)	D1541G	probably benign	Het
H2-D1	G	T	17: 35,482,471 (GRCm39)	A64S	possibly damaging	Het
Hsd17b2	T	A	8: 118,428,909 (GRCm39)	F59I	possibly damaging	Het
Itgb7	T	G	15: 102,131,911 (GRCm39)	Q224P	probably damaging	Het
Jak1	A	G	4: 101,048,821 (GRCm39)		probably null	Het
Kdm1b	G	A	13: 47,217,707 (GRCm39)		probably null	Het
Lrp8	A	G	4: 107,711,613 (GRCm39)	I466V	probably damaging	Het
Mga	A	G	2: 119,795,043 (GRCm39)	D2909G	probably damaging	Het
Nol8	T	C	13: 49,814,980 (GRCm39)	S345P	probably benign	Het
Nup210l	T	C	3: 90,051,476 (GRCm39)	M540T	probably benign	Het
Obscn	C	T	11: 59,003,464 (GRCm39)	R1370H	probably benign	Het
Or2ad1	A	G	13: 21,327,125 (GRCm39)	F34S	probably damaging	Het
Pbx3	A	G	2: 34,065,965 (GRCm39)	V375A	probably benign	Het
Ppp1r9a	T	C	6: 4,906,168 (GRCm39)	V241A	possibly damaging	Het
Psmd6	C	T	14: 14,112,539 (GRCm38)	V354M	probably damaging	Het
Rab2a	T	C	4: 8,578,481 (GRCm39)	F94L	probably damaging	Het
Rev1	T	C	1: 38,094,571 (GRCm39)	D949G	probably damaging	Het
Ric8a	A	G	7: 140,438,091 (GRCm39)	D110G	probably damaging	Het
Rlf	A	T	4: 121,007,197 (GRCm39)	D594E	probably benign	Het
Septin1	C	A	7: 126,817,230 (GRCm39)		probably null	Het
Slco5a1	G	C	1: 13,060,607 (GRCm39)	P38R	probably damaging	Het
Snx33	C	A	9: 56,833,241 (GRCm39)	R276L	probably damaging	Het
Taf11	A	T	17: 28,124,253 (GRCm39)	D101E	probably benign	Het
Ttn	A	G	2: 76,764,564 (GRCm39)	S3168P	probably damaging	Het
Uggt2	T	C	14: 119,295,075 (GRCm39)	E41G	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,249 (GRCm39)	R692G	probably damaging	Het
Zfp763	A	T	17: 33,240,758 (GRCm39)	W24R	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
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'- ggggaagggatagtgggttCAAGT -3'
(R):5'- TCAGGGACTAAGCGGGATGATGG -3'

Sequencing Primer
(F):5'- GTGCCTGATATTGTTAAGTAACCCTG -3'
(R):5'- CAGTTTGCATCTAGGACATATCAC -3'

Posted On

2014-04-24