Mutagenetix > Incidental Mutation

Incidental Mutation 'R4304:Gm7173'

322552

Institutional Source

Beutler Lab

Gene Symbol

Gm7173

Ensembl Gene

ENSMUSG00000073077

Gene Name

predicted gene 7173

Synonyms

MMRRC Submission

040865-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4304 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

79266559-79517285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 79498029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 469 (K469N)

Ref Sequence

ENSEMBL: ENSMUSP00000098956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101410] [ENSMUST00000197180]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000101410
AA Change: K469N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098956
Gene: ENSMUSG00000073077
AA Change: K469N

Domain	Start	End	E-Value	Type
SCOP:d1grwa_	390	460	1e-2	SMART
low complexity region	597	608	N/A	INTRINSIC
low complexity region	653	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197180
AA Change: K469N

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: K469N

Domain	Start	End	E-Value	Type
low complexity region	597	608	N/A	INTRINSIC
low complexity region	653	676	N/A	INTRINSIC
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1599	1611	N/A	INTRINSIC
CH	1679	1797	9e-6	SMART
low complexity region	2440	2451	N/A	INTRINSIC
low complexity region	2578	2590	N/A	INTRINSIC
low complexity region	2901	2911	N/A	INTRINSIC

Meta Mutation Damage Score

0.1961

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,238	Q261*	probably null	Het
Adam32	A	T	8: 24,901,529	M323K	probably damaging	Het
Arhgap42	A	G	9: 9,006,488	S636P	probably benign	Het
Arhgef5	C	T	6: 43,279,498	A1180V	probably damaging	Het
Cep152	G	A	2: 125,563,723	Q1630*	probably null	Het
Cfap157	G	A	2: 32,779,042	R350W	probably damaging	Het
Csgalnact1	A	T	8: 68,372,642	V400D	possibly damaging	Het
Fig4	T	A	10: 41,256,427	D461V	probably benign	Het
Frmd4a	C	T	2: 4,333,078	R32C	probably benign	Het
Gcfc2	G	A	6: 81,943,007	R397Q	probably damaging	Het
Gm20939	A	C	17: 94,877,281	Q452H	probably benign	Het
Gm5592	A	T	7: 41,286,262	M63L	probably benign	Het
H2-M3	T	C	17: 37,272,404	M252T	probably benign	Het
Lsm14a	C	A	7: 34,357,433		probably null	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Npc1	C	T	18: 12,210,527	A470T	possibly damaging	Het
Oit1	G	A	14: 8,349,324	P209S	probably damaging	Het
Olfr1240	A	T	2: 89,440,198	V27D	probably damaging	Het
Prr27	A	G	5: 87,842,907	H126R	probably benign	Het
Rptn	C	A	3: 93,396,931	H524N	probably benign	Het
Slc4a11	A	T	2: 130,688,138	M240K	probably benign	Het
Smg1	T	C	7: 118,139,518	I3503V	probably benign	Het
Snx13	A	G	12: 35,122,942	K625E	probably benign	Het
Stk10	T	C	11: 32,610,634	V663A	probably damaging	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tpp1	T	A	7: 105,750,309	D84V	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,040	R125*	probably null	Het
Vmn2r12	A	G	5: 109,086,006	L780P	probably damaging	Het
Wfdc15b	A	C	2: 164,215,468	M1R	probably null	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het

Other mutations in Gm7173

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Gm7173	APN	X	79489158	missense	possibly damaging	0.87
IGL02025:Gm7173	APN	X	79510430	missense	probably benign	0.16
IGL02632:Gm7173	APN	X	79496673	missense	probably damaging	1.00
R1386:Gm7173	UTSW	X	79509901	missense	possibly damaging	0.54
R1551:Gm7173	UTSW	X	79488645	missense	probably damaging	1.00
R2121:Gm7173	UTSW	X	79510321	missense	probably benign	0.04
R2124:Gm7173	UTSW	X	79510321	missense	probably benign	0.04
R2192:Gm7173	UTSW	X	79410612	missense	probably damaging	1.00
R3725:Gm7173	UTSW	X	79510015	missense	probably damaging	0.97
R4305:Gm7173	UTSW	X	79498029	missense	probably damaging	1.00
R4522:Gm7173	UTSW	X	79509995	missense	possibly damaging	0.63
R4523:Gm7173	UTSW	X	79509995	missense	possibly damaging	0.63
Z1088:Gm7173	UTSW	X	79330813	missense	probably damaging	1.00
Z1088:Gm7173	UTSW	X	79330814	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGAAAAGCACTGTTTTGAAC -3'
(R):5'- AATTGCTTATAAATCCCCGTGGTG -3'

Sequencing Primer
(F):5'- GAAAATCACATCACAGCTATGTAGG -3'
(R):5'- ATCCCCGTGGTGAAAATATGTTGC -3'

Posted On

2015-06-20