Mutagenetix > Incidental Mutations

Incidental Mutation 'R4522:Gm7173'

334283

Institutional Source

Beutler Lab

Gene Symbol

Gm7173

Ensembl Gene

ENSMUSG00000073077

Gene Name

predicted gene 7173

Synonyms

MMRRC Submission

041765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4522 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

79266559-79517285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79509995 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 291 (N291K)

Ref Sequence

ENSEMBL: ENSMUSP00000098956 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101410
AA Change: N291K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098956
Gene: ENSMUSG00000073077
AA Change: N291K

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: N291K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142707
Gene: ENSMUSG00000073077
AA Change: N291K

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

0.1268

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Babam2	G	A	5: 32,007,242	V287M	probably damaging	Het
Brip1	T	C	11: 86,189,801	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,654,430	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Chaf1b	G	A	16: 93,901,295	A485T	probably benign	Het
Dock7	T	C	4: 98,962,224	R1594G	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Gm3739	T	A	14: 7,299,398	K86*	probably null	Het
Mark2	A	T	19: 7,285,948	D151E	probably damaging	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nwd1	A	T	8: 72,670,951	D606V	probably damaging	Het
Olfr1132	T	A	2: 87,635,151	I199L	probably benign	Het
Pcbp1	T	C	6: 86,525,050	N289S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,472,960	L55P	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec23b	T	A	2: 144,578,366	I450N	possibly damaging	Het
Speg	A	G	1: 75,428,330	E2922G	probably damaging	Het
Spem1	C	A	11: 69,821,805		probably null	Het
Stxbp3-ps	A	T	19: 9,559,110		noncoding transcript	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,592,584	T129A	probably benign	Het
Ttc28	A	G	5: 111,280,172	T1845A	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ush2a	C	T	1: 188,864,625	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,930,056	V264E	possibly 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
R4304:Gm7173	UTSW	X	79498029	missense	probably damaging	1.00
R4305:Gm7173	UTSW	X	79498029	missense	probably damaging	1.00
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'- CAAACAAGTCTGGTTAGTGTGTAAC -3'
(R):5'- CTGACTAACTCGATTCTCCTCAAG -3'

Sequencing Primer
(F):5'- TGCTTACTTTGGGCTGAA -3'
(R):5'- AACTCGATTCTCCTCAAGTTTTG -3'

Posted On

2015-08-18