Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Gm14496'

547147

Institutional Source

Beutler Lab

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 181642120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 597 (I597S)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

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

AlphaFold

K7N5U4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071760
AA Change: I597S

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: I597S

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% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	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
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'- AGGGTTTATTGACATTTGCCAGC -3'
(R):5'- ACCACGGTTATTGTTTTGGC -3'

Sequencing Primer
(F):5'- TGACATTTGCCAGCAGATATGG -3'
(R):5'- AATACTCCAAATGTGGTCTGCTGC -3'

Posted On

2019-05-13