Mutagenetix > Incidental Mutation

Incidental Mutation 'R7596:Gm5591'

587720

Institutional Source

Beutler Lab

Gene Symbol

Gm5591

Ensembl Gene

ENSMUSG00000060565

Gene Name

predicted gene 5591

Synonyms

MMRRC Submission

045671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R7596 (G1)

Quality Score

143.008

Status

Not validated

Chromosome

Chromosomal Location

38217563-38227617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38219608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 422 (I422L)

Ref Sequence

ENSEMBL: ENSMUSP00000078695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079759]

AlphaFold

Q8CDK1

Predicted Effect

probably benign
Transcript: ENSMUST00000079759
AA Change: I422L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: I422L

Domain	Start	End	E-Value	Type
low complexity region	319	330	N/A	INTRINSIC
Pfam:DUF4629	437	582	1.2e-59	PFAM
low complexity region	648	660	N/A	INTRINSIC
low complexity region	693	704	N/A	INTRINSIC
low complexity region	711	723	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,556,224 (GRCm39)	S146N	probably damaging	Het
Adam26b	A	C	8: 43,973,237 (GRCm39)	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,363,140 (GRCm39)	R547L	probably benign	Het
Bckdk	G	T	7: 127,505,572 (GRCm39)	E232*	probably null	Het
C8a	T	C	4: 104,711,064 (GRCm39)	K244E	possibly damaging	Het
Cad	A	G	5: 31,226,392 (GRCm39)	I1145V	probably benign	Het
Cd28	C	A	1: 60,802,487 (GRCm39)	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,615,812 (GRCm39)	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,739,167 (GRCm39)	N1298S	probably benign	Het
Cpne5	C	T	17: 29,445,191 (GRCm39)	D38N	possibly damaging	Het
Dcn	A	T	10: 97,345,871 (GRCm39)	I228F	probably damaging	Het
Gnptab	T	G	10: 88,279,232 (GRCm39)	F1201V	probably damaging	Het
Hc	A	G	2: 34,890,859 (GRCm39)	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,847,361 (GRCm39)	N385D	probably benign	Het
Ikbip	A	T	10: 90,918,891 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,722,350 (GRCm39)	L51P	probably damaging	Het
Lcn2	A	G	2: 32,275,721 (GRCm39)	Y160H	probably damaging	Het
Lig1	T	C	7: 13,039,923 (GRCm39)	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,531,592 (GRCm39)	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,111,310 (GRCm39)	T394M	probably damaging	Het
Map7	A	G	10: 20,153,927 (GRCm39)	N681S	unknown	Het
Mdga2	A	T	12: 66,552,897 (GRCm39)	M912K	probably damaging	Het
Mlst8	C	T	17: 24,697,084 (GRCm39)		probably null	Het
Ms4a13	A	T	19: 11,147,329 (GRCm39)	V195D	unknown	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nr4a2	G	C	2: 56,998,243 (GRCm39)	F574L	probably damaging	Het
Nup107	T	C	10: 117,613,065 (GRCm39)	N288D	probably damaging	Het
Or11g26	A	T	14: 50,753,002 (GRCm39)	T114S	probably benign	Het
Or13a1	T	A	6: 116,471,158 (GRCm39)	V196D	probably benign	Het
Or5b3	C	T	19: 13,388,511 (GRCm39)	H193Y	probably benign	Het
Pcolce	A	G	5: 137,605,087 (GRCm39)		probably null	Het
Pik3cg	A	G	12: 32,254,740 (GRCm39)	F416L	probably damaging	Het
Podnl1	A	G	8: 84,853,024 (GRCm39)	I65V		Het
Prpf8	T	C	11: 75,382,330 (GRCm39)	F387S	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,584,162 (GRCm39)	T430A	probably benign	Het
Rnf187	T	C	11: 58,829,241 (GRCm39)	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,443,783 (GRCm39)	V57I	probably benign	Het
Samhd1	A	T	2: 156,943,754 (GRCm39)	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,722,664 (GRCm39)	T244A	probably benign	Het
Slc35f4	T	A	14: 49,543,666 (GRCm39)	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Smc5	A	C	19: 23,191,533 (GRCm39)	V889G	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spopfm2	T	A	3: 94,083,737 (GRCm39)	T25S	probably benign	Het
Tango2	A	G	16: 18,120,574 (GRCm39)	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,057 (GRCm39)	T995A	probably benign	Het
Trio	A	T	15: 27,749,912 (GRCm39)	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,427,990 (GRCm39)	F1829L	probably damaging	Het
Ttn	A	G	2: 76,638,923 (GRCm39)	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,877,570 (GRCm39)	N133S	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,197,533 (GRCm39)	T705M	unknown	Het
Vmn2r109	A	T	17: 20,760,942 (GRCm39)	M805K	probably damaging	Het
Vsig10	T	C	5: 117,472,848 (GRCm39)	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,743,704 (GRCm39)	V203L	possibly damaging	Het

Other mutations in Gm5591

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm5591	APN	7	38,219,838 (GRCm39)	missense	probably benign	0.20
IGL02277:Gm5591	APN	7	38,218,462 (GRCm39)	missense	possibly damaging	0.92
IGL02277:Gm5591	APN	7	38,219,856 (GRCm39)	missense	probably damaging	0.98
IGL02503:Gm5591	APN	7	38,219,433 (GRCm39)	missense	probably damaging	1.00
IGL02897:Gm5591	APN	7	38,219,466 (GRCm39)	missense	probably damaging	1.00
IGL02899:Gm5591	APN	7	38,218,842 (GRCm39)	missense	probably damaging	1.00
R1599:Gm5591	UTSW	7	38,219,794 (GRCm39)	missense	probably benign
R2365:Gm5591	UTSW	7	38,218,825 (GRCm39)	missense	probably damaging	1.00
R3054:Gm5591	UTSW	7	38,220,058 (GRCm39)	missense	probably benign	0.35
R4619:Gm5591	UTSW	7	38,220,072 (GRCm39)	missense	probably benign	0.04
R4722:Gm5591	UTSW	7	38,218,572 (GRCm39)	missense	probably damaging	1.00
R4779:Gm5591	UTSW	7	38,221,680 (GRCm39)	missense	probably damaging	0.96
R5079:Gm5591	UTSW	7	38,221,560 (GRCm39)	missense	probably benign	0.01
R5237:Gm5591	UTSW	7	38,221,631 (GRCm39)	missense	probably benign	0.31
R5267:Gm5591	UTSW	7	38,218,338 (GRCm39)	missense	possibly damaging	0.94
R6337:Gm5591	UTSW	7	38,221,319 (GRCm39)	missense	probably benign	0.00
R6458:Gm5591	UTSW	7	38,218,459 (GRCm39)	missense	probably damaging	1.00
R6671:Gm5591	UTSW	7	38,219,523 (GRCm39)	missense	possibly damaging	0.71
R6709:Gm5591	UTSW	7	38,221,499 (GRCm39)	missense	probably benign	0.31
R6874:Gm5591	UTSW	7	38,219,715 (GRCm39)	missense	probably damaging	0.97
R6917:Gm5591	UTSW	7	38,221,614 (GRCm39)	missense	probably damaging	0.99
R6993:Gm5591	UTSW	7	38,218,647 (GRCm39)	missense	probably benign
R7446:Gm5591	UTSW	7	38,218,933 (GRCm39)	missense	probably benign	0.16
R7519:Gm5591	UTSW	7	38,220,094 (GRCm39)	missense	possibly damaging	0.70
R7923:Gm5591	UTSW	7	38,221,338 (GRCm39)	missense	probably benign	0.13
R8003:Gm5591	UTSW	7	38,219,183 (GRCm39)	missense	probably damaging	0.96
R8027:Gm5591	UTSW	7	38,221,722 (GRCm39)	missense	probably damaging	0.99
R8058:Gm5591	UTSW	7	38,218,363 (GRCm39)	missense	probably benign	0.00
R8242:Gm5591	UTSW	7	38,219,746 (GRCm39)	missense	probably benign
R8719:Gm5591	UTSW	7	38,221,614 (GRCm39)	missense	probably benign	0.03
R8943:Gm5591	UTSW	7	38,219,727 (GRCm39)	missense	probably benign	0.21
R9314:Gm5591	UTSW	7	38,221,884 (GRCm39)	missense	probably benign	0.00
R9403:Gm5591	UTSW	7	38,221,680 (GRCm39)	missense	probably damaging	0.96
R9403:Gm5591	UTSW	7	38,219,572 (GRCm39)	missense	probably benign	0.00
R9424:Gm5591	UTSW	7	38,219,721 (GRCm39)	missense	probably damaging	1.00
RF052:Gm5591	UTSW	7	38,221,999 (GRCm39)	frame shift	probably null
RF062:Gm5591	UTSW	7	38,221,759 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTTGAGATGTTGTCAATAGCTC -3'
(R):5'- TTACTGCACCCTGACTGCAC -3'

Sequencing Primer
(F):5'- GAGATGTTGTCAATAGCTCTTTCC -3'
(R):5'- TGACTGCACTGATACAAGAAGTC -3'

Posted On

2019-10-24