Mutagenetix > Incidental Mutation

Incidental Mutation 'R7992:Gm5773'

651788

Institutional Source

Beutler Lab

Gene Symbol

Gm5773

Ensembl Gene

ENSMUSG00000068879

Gene Name

predicted pseudogene 5773

Synonyms

MMRRC Submission

046033-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R7992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93680307-93681449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93680373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 15 (I15N)

Ref Sequence

ENSEMBL: ENSMUSP00000088366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090853]

AlphaFold

Q717B2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090853
AA Change: I15N

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088366
Gene: ENSMUSG00000068879
AA Change: I15N

Domain	Start	End	E-Value	Type
MATH	40	130	2.58e-7	SMART
BTB	188	287	2.82e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,310,904 (GRCm39)	T1054A	probably benign	Het
Ankfn1	A	C	11: 89,413,859 (GRCm39)	I172S	probably benign	Het
Ano3	T	C	2: 110,605,367 (GRCm39)	T280A	possibly damaging	Het
Arhgef37	T	A	18: 61,638,827 (GRCm39)	E307D	probably benign	Het
Bptf	C	T	11: 107,001,709 (GRCm39)	V468I	probably benign	Het
Ces1b	A	G	8: 93,786,987 (GRCm39)	V464A	probably benign	Het
Cmc2	A	T	8: 117,616,446 (GRCm39)	L93*	probably null	Het
Ddx60	A	G	8: 62,407,569 (GRCm39)	D360G	probably benign	Het
Dock6	C	T	9: 21,744,135 (GRCm39)		probably null	Het
Erp44	A	G	4: 48,218,136 (GRCm39)	F178L	possibly damaging	Het
Fam47e	T	C	5: 92,722,541 (GRCm39)	V79A	probably damaging	Het
Fancd2	T	C	6: 113,542,165 (GRCm39)	S770P	probably damaging	Het
Fcgr1	A	G	3: 96,191,897 (GRCm39)	F304L	probably benign	Het
Fkbp15	T	C	4: 62,230,538 (GRCm39)	E725G	probably damaging	Het
Fn1	T	C	1: 71,638,825 (GRCm39)	I1971V	probably benign	Het
Gdf6	A	G	4: 9,844,652 (GRCm39)	S59G	probably benign	Het
Hesx1	T	C	14: 26,723,379 (GRCm39)	S70P	probably benign	Het
Htr5a	T	C	5: 28,055,995 (GRCm39)	S329P	probably damaging	Het
Htt	T	C	5: 34,987,225 (GRCm39)		probably null	Het
Iba57	T	A	11: 59,052,288 (GRCm39)	M118L	unknown	Het
Ifi35	C	T	11: 101,348,307 (GRCm39)	Q112*	probably null	Het
Il12rb1	G	T	8: 71,265,233 (GRCm39)	R183L	possibly damaging	Het
Il12rb2	A	T	6: 67,328,311 (GRCm39)	Y306*	probably null	Het
Ints1	C	G	5: 139,742,282 (GRCm39)	D1722H	probably damaging	Het
Ipp	T	G	4: 116,381,453 (GRCm39)	D317E	probably damaging	Het
Kif26a	A	G	12: 112,142,481 (GRCm39)	T912A	probably benign	Het
Klhdc7a	A	G	4: 139,693,045 (GRCm39)	V634A	probably damaging	Het
Klhl40	C	A	9: 121,607,748 (GRCm39)	P303T	probably damaging	Het
Krt13	T	C	11: 100,008,478 (GRCm39)	T420A	unknown	Het
Lpcat2	T	C	8: 93,582,186 (GRCm39)	F35S	probably damaging	Het
Macf1	A	G	4: 123,289,753 (GRCm39)	V5470A	probably damaging	Het
Mta2	T	C	19: 8,925,151 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,567,725 (GRCm39)	T1598K	unknown	Het
Nckap5	A	T	1: 125,954,547 (GRCm39)	N668K	probably damaging	Het
Nlrp4a	A	T	7: 26,150,070 (GRCm39)	D559V	possibly damaging	Het
Npat	T	C	9: 53,474,167 (GRCm39)	L653P	probably benign	Het
Oog1	G	A	12: 87,655,252 (GRCm39)	V467I	possibly damaging	Het
Or4c15b	A	G	2: 89,113,082 (GRCm39)	S132P	probably benign	Het
Or4f56	C	T	2: 111,703,280 (GRCm39)	A307T	probably benign	Het
Pdzph1	T	A	17: 59,186,105 (GRCm39)	M1229L	possibly damaging	Het
Piwil4	T	A	9: 14,614,445 (GRCm39)	Q106L		Het
Plekha5	C	A	6: 140,472,267 (GRCm39)	R65S	probably damaging	Het
Ptger4	T	C	15: 5,264,381 (GRCm39)	Y425C	probably damaging	Het
Pus7	A	G	5: 23,951,465 (GRCm39)	M534T	possibly damaging	Het
Rtkn2	C	T	10: 67,875,923 (GRCm39)	P411S	probably damaging	Het
Scand1	G	A	2: 156,154,232 (GRCm39)	P13S	unknown	Het
Scaper	T	C	9: 55,765,438 (GRCm39)	H550R	probably benign	Het
Senp5	T	A	16: 31,796,514 (GRCm39)	K617I	probably damaging	Het
Shq1	A	G	6: 100,613,972 (GRCm39)	L282P	probably damaging	Het
Slc12a6	T	A	2: 112,166,256 (GRCm39)	C227S	probably damaging	Het
Slc5a9	T	A	4: 111,747,729 (GRCm39)	T284S	probably benign	Het
Stat2	T	A	10: 128,120,831 (GRCm39)	F579L	probably damaging	Het
Tes	G	T	6: 17,096,242 (GRCm39)	A77S	possibly damaging	Het
Themis	A	T	10: 28,637,342 (GRCm39)	T149S	probably benign	Het
Tmprss6	C	T	15: 78,326,664 (GRCm39)	R653H	probably benign	Het
Trmt6	G	A	2: 132,652,959 (GRCm39)	L107F	probably damaging	Het
Trpm6	T	C	19: 18,792,714 (GRCm39)	C713R	probably damaging	Het
Trpm7	T	C	2: 126,667,454 (GRCm39)	I820V	probably benign	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Xab2	A	T	8: 3,668,622 (GRCm39)	V82E	possibly damaging	Het
Zfp938	T	A	10: 82,061,777 (GRCm39)	Y281F	possibly damaging	Het

Other mutations in Gm5773

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02954:Gm5773	APN	3	93,680,358 (GRCm39)	missense	probably benign	0.15
IGL03411:Gm5773	APN	3	93,681,264 (GRCm39)	missense	probably damaging	1.00
BB005:Gm5773	UTSW	3	93,680,997 (GRCm39)	missense	probably damaging	0.96
BB015:Gm5773	UTSW	3	93,680,997 (GRCm39)	missense	probably damaging	0.96
R0239:Gm5773	UTSW	3	93,681,339 (GRCm39)	missense	probably benign	0.01
R0239:Gm5773	UTSW	3	93,681,339 (GRCm39)	missense	probably benign	0.01
R1087:Gm5773	UTSW	3	93,681,065 (GRCm39)	missense	probably damaging	1.00
R1884:Gm5773	UTSW	3	93,681,348 (GRCm39)	missense	probably benign	0.00
R2122:Gm5773	UTSW	3	93,680,624 (GRCm39)	missense	possibly damaging	0.78
R2182:Gm5773	UTSW	3	93,680,820 (GRCm39)	missense	probably benign	0.00
R4615:Gm5773	UTSW	3	93,681,339 (GRCm39)	missense	probably benign	0.01
R4650:Gm5773	UTSW	3	93,680,712 (GRCm39)	missense	probably benign	0.04
R5127:Gm5773	UTSW	3	93,680,735 (GRCm39)	missense	probably benign
R5141:Gm5773	UTSW	3	93,681,034 (GRCm39)	missense	probably benign	0.04
R5347:Gm5773	UTSW	3	93,681,090 (GRCm39)	missense	probably damaging	0.99
R6883:Gm5773	UTSW	3	93,681,162 (GRCm39)	missense	probably benign	0.31
R6962:Gm5773	UTSW	3	93,681,234 (GRCm39)	missense	possibly damaging	0.90
R7444:Gm5773	UTSW	3	93,680,850 (GRCm39)	missense	probably damaging	1.00
R7549:Gm5773	UTSW	3	93,680,323 (GRCm39)	start gained	probably benign
R7743:Gm5773	UTSW	3	93,680,565 (GRCm39)	missense	probably damaging	0.97
R7916:Gm5773	UTSW	3	93,680,586 (GRCm39)	missense	possibly damaging	0.52
R7928:Gm5773	UTSW	3	93,680,997 (GRCm39)	missense	probably damaging	0.96
R8024:Gm5773	UTSW	3	93,680,475 (GRCm39)	missense	probably benign	0.06
R8500:Gm5773	UTSW	3	93,680,835 (GRCm39)	missense	probably benign	0.00
R8805:Gm5773	UTSW	3	93,681,042 (GRCm39)	missense	probably damaging	1.00
R9135:Gm5773	UTSW	3	93,681,179 (GRCm39)	missense	possibly damaging	0.94
R9281:Gm5773	UTSW	3	93,680,891 (GRCm39)	missense	probably benign	0.12
R9554:Gm5773	UTSW	3	93,680,340 (GRCm39)	missense	probably benign	0.00
R9566:Gm5773	UTSW	3	93,680,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCAGGAGATGTTAACC -3'
(R):5'- CCTAACTTGTCTCTTTGGGCAG -3'

Sequencing Primer
(F):5'- GTCCACGCTGAGGCATATC -3'
(R):5'- GGTAAACTGACAGGTAATCTTTGC -3'

Posted On

2020-09-15