Mutagenetix > Incidental Mutation

Incidental Mutation 'R4408:Gm5592'

327761

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

041690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40935872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 125 (T125A)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]

AlphaFold

Q3V0A6

Predicted Effect

probably benign
Transcript: ENSMUST00000097044
AA Change: T125A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: T125A

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	6.1e-60	PFAM
low complexity region	607	612	N/A	INTRINSIC
low complexity region	708	725	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably benign
Transcript: ENSMUST00000206490
AA Change: T125A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	A	G	17: 25,599,601 (GRCm39)	V1588A	probably damaging	Het
Card6	T	A	15: 5,130,536 (GRCm39)	M287L	probably damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fndc5	A	G	4: 129,036,322 (GRCm39)		probably null	Het
Gm10799	C	A	2: 103,898,409 (GRCm39)	A99S	possibly damaging	Het
Gm27013	A	T	6: 130,654,728 (GRCm39)	S245T	possibly damaging	Het
Gml2	T	C	15: 74,696,188 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,585,498 (GRCm39)	N149K	possibly damaging	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Hnrnpu	T	C	1: 178,158,368 (GRCm39)		probably benign	Het
Irf5	A	G	6: 29,534,000 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,297,513 (GRCm39)	K3149N	probably benign	Het
Lrrn3	A	G	12: 41,504,041 (GRCm39)	V92A	probably benign	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4k77	T	A	2: 111,199,625 (GRCm39)	I216K	possibly damaging	Het
Or9s18	A	G	13: 65,300,514 (GRCm39)	T159A	probably benign	Het
Osr2	T	C	15: 35,300,617 (GRCm39)	Y58H	possibly damaging	Het
Pop5	C	T	5: 115,378,836 (GRCm39)		probably benign	Het
Ror2	A	G	13: 53,272,997 (GRCm39)	C211R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sgsm2	C	A	11: 74,742,592 (GRCm39)	R957L	probably damaging	Het
Slc16a11	A	G	11: 70,106,560 (GRCm39)		probably null	Het
Spag17	T	A	3: 100,010,694 (GRCm39)	Y2063N	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn1r23	T	C	6: 57,903,353 (GRCm39)	I142V	probably benign	Het
Vmn1r235	A	G	17: 21,481,854 (GRCm39)	K60E	probably damaging	Het
Vmn2r33	A	C	7: 7,554,229 (GRCm39)	F775V	probably damaging	Het
Vps13b	C	T	15: 35,709,440 (GRCm39)	P1796S	probably damaging	Het
Vwa3a	G	A	7: 120,378,149 (GRCm39)	V480I	probably benign	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	40,938,519 (GRCm39)	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	40,935,498 (GRCm39)	splice site	probably benign
IGL01718:Gm5592	APN	7	40,938,617 (GRCm39)	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	40,935,795 (GRCm39)	nonsense	probably null
IGL02318:Gm5592	APN	7	40,936,212 (GRCm39)	missense	probably benign	0.37
IGL02346:Gm5592	APN	7	40,938,889 (GRCm39)	missense	probably damaging	0.97
IGL02904:Gm5592	APN	7	40,937,810 (GRCm39)	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	40,935,778 (GRCm39)	nonsense	probably null
R0465:Gm5592	UTSW	7	40,805,481 (GRCm39)	intron	probably benign
R0669:Gm5592	UTSW	7	40,805,254 (GRCm39)	intron	probably benign
R0675:Gm5592	UTSW	7	40,938,811 (GRCm39)	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	40,935,596 (GRCm39)	missense	probably benign
R1731:Gm5592	UTSW	7	40,937,837 (GRCm39)	missense	probably damaging	0.99
R3149:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3150:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	40,807,052 (GRCm39)	intron	probably benign
R3797:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3854:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3856:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R4009:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	40,936,052 (GRCm39)	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	40,938,491 (GRCm39)	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	40,867,202 (GRCm39)	intron	probably benign
R4289:Gm5592	UTSW	7	40,808,336 (GRCm39)	intron	probably benign
R4304:Gm5592	UTSW	7	40,935,686 (GRCm39)	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4572:Gm5592	UTSW	7	40,865,583 (GRCm39)	intron	probably benign
R4764:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4822:Gm5592	UTSW	7	40,805,314 (GRCm39)	intron	probably benign
R4836:Gm5592	UTSW	7	40,864,958 (GRCm39)	intron	probably benign
R4854:Gm5592	UTSW	7	40,866,895 (GRCm39)	intron	probably benign
R5032:Gm5592	UTSW	7	40,939,159 (GRCm39)	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	40,808,387 (GRCm39)	intron	probably benign
R5369:Gm5592	UTSW	7	40,867,635 (GRCm39)	intron	probably benign
R5424:Gm5592	UTSW	7	40,805,017 (GRCm39)	intron	probably benign
R5700:Gm5592	UTSW	7	40,808,003 (GRCm39)	intron	probably benign
R5741:Gm5592	UTSW	7	40,938,625 (GRCm39)	missense	probably benign
R5802:Gm5592	UTSW	7	40,868,529 (GRCm39)	intron	probably benign
R5945:Gm5592	UTSW	7	40,865,036 (GRCm39)	intron	probably benign
R6117:Gm5592	UTSW	7	40,937,888 (GRCm39)	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	40,935,959 (GRCm39)	missense	probably damaging	0.98
R6449:Gm5592	UTSW	7	40,938,010 (GRCm39)	missense	probably benign	0.09
R6571:Gm5592	UTSW	7	40,937,999 (GRCm39)	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	40,939,153 (GRCm39)	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	40,935,867 (GRCm39)	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	40,938,134 (GRCm39)	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	40,939,283 (GRCm39)	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	40,936,118 (GRCm39)	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	40,936,183 (GRCm39)	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	40,935,887 (GRCm39)	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	40,937,975 (GRCm39)	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	40,938,246 (GRCm39)	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	40,938,274 (GRCm39)	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	40,938,887 (GRCm39)	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	40,938,407 (GRCm39)	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	40,935,876 (GRCm39)	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	40,939,234 (GRCm39)	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	40,937,932 (GRCm39)	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	40,938,105 (GRCm39)	missense	probably benign	0.00
Z1176:Gm5592	UTSW	7	40,935,743 (GRCm39)	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	40,935,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCTACCATCAGCATCCAG -3'
(R):5'- GTAATAGACCTGGCTGCCTTC -3'

Sequencing Primer
(F):5'- GGGTAATGCCTATCTTAACCCACATG -3'
(R):5'- TCCTGGTAGGAAGGTGCCAG -3'

Posted On

2015-07-07