Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Gm5930'

556813

Institutional Source

Beutler Lab

Gene Symbol

Gm5930

Ensembl Gene

ENSMUSG00000079267

Gene Name

predicted gene 5930

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44567899-44576041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44573993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 115 (L115M)

Ref Sequence

ENSEMBL: ENSMUSP00000107494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111863] [ENSMUST00000178002]

AlphaFold

D3Z257

Predicted Effect

probably damaging
Transcript: ENSMUST00000111863
AA Change: L115M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107494
Gene: ENSMUSG00000079267
AA Change: L115M

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	127	1.4e-27	PFAM
coiled coil region	147	177	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178002
AA Change: L80M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136583
Gene: ENSMUSG00000079267
AA Change: L80M

Domain	Start	End	E-Value	Type
Pfam:Takusan	11	94	9.3e-37	PFAM
coiled coil region	112	142	N/A	INTRINSIC

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,384,209 (GRCm39)		probably null	Het
Adam20	T	A	8: 41,247,985 (GRCm39)	Y32N	probably benign	Het
Adm	T	C	7: 110,227,496 (GRCm39)	V4A	probably benign	Het
Anpep	G	A	7: 79,489,212 (GRCm39)	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,672,341 (GRCm39)	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,396,069 (GRCm39)	M12K	possibly damaging	Het
Cad	T	C	5: 31,229,438 (GRCm39)	L1435P	probably damaging	Het
Cat	T	C	2: 103,302,157 (GRCm39)	D180G	probably damaging	Het
Cntln	C	T	4: 84,892,237 (GRCm39)	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,540,404 (GRCm39)	R339Q	probably benign	Het
Defa22	T	C	8: 21,652,352 (GRCm39)	L6P	probably damaging	Het
Dr1	T	A	5: 108,417,604 (GRCm39)	I50K	probably damaging	Het
Eln	C	T	5: 134,766,032 (GRCm39)	G57E	unknown	Het
Fat4	T	C	3: 38,943,153 (GRCm39)	I682T	probably benign	Het
Fat4	C	A	3: 39,036,506 (GRCm39)	A3386E	probably damaging	Het
Fcgr3	T	A	1: 170,885,319 (GRCm39)	Y102F	probably damaging	Het
Herc1	T	A	9: 66,386,291 (GRCm39)	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,125,145 (GRCm39)	S106P	probably benign	Het
Kcns3	C	T	12: 11,142,749 (GRCm39)		probably benign	Het
Kndc1	T	A	7: 139,512,830 (GRCm39)	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,637,180 (GRCm39)	S690A	probably benign	Het
Lrfn5	T	C	12: 61,890,343 (GRCm39)	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,509,861 (GRCm39)	H450Q	probably damaging	Het
Mdm1	A	G	10: 117,994,445 (GRCm39)	T485A	probably benign	Het
Megf10	T	C	18: 57,410,760 (GRCm39)	C690R	probably damaging	Het
Myo7a	A	G	7: 97,712,806 (GRCm39)	M1723T	probably benign	Het
Nrip3	A	T	7: 109,364,714 (GRCm39)	C137*	probably null	Het
Or5w22	T	A	2: 87,363,124 (GRCm39)	I249N	probably damaging	Het
Pde4a	T	A	9: 21,122,297 (GRCm39)	M731K	probably benign	Het
Pebp1	A	G	5: 117,421,527 (GRCm39)	L117P	probably damaging	Het
Phc2	T	C	4: 128,598,995 (GRCm39)	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,284,713 (GRCm39)	F50S	probably benign	Het
Prpf4b	A	G	13: 35,083,825 (GRCm39)	S865G	probably benign	Het
Ptpn5	C	T	7: 46,738,354 (GRCm39)	V243M	probably benign	Het
Rora	T	C	9: 69,271,841 (GRCm39)	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,432,204 (GRCm39)	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,063,985 (GRCm39)	G95D	probably benign	Het
Sec24b	A	G	3: 129,788,040 (GRCm39)	V820A	probably benign	Het
Sim2	A	G	16: 93,895,168 (GRCm39)	D62G	possibly damaging	Het
Slc17a4	A	T	13: 24,084,497 (GRCm39)	V429D	probably benign	Het
Sp2	T	C	11: 96,852,799 (GRCm39)	T42A	probably damaging	Het
Spata3	G	A	1: 85,952,169 (GRCm39)	R141Q	unknown	Het
Sptbn2	A	T	19: 4,795,605 (GRCm39)	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,655,473 (GRCm39)	H501R	probably benign	Het
Tec	G	A	5: 72,931,178 (GRCm39)	T262M	possibly damaging	Het
Timm9	A	T	12: 71,172,305 (GRCm39)	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701 (GRCm39)		probably null	Het
Tmbim4	A	G	10: 120,053,529 (GRCm39)	I109M	probably benign	Het
Tmc7	T	C	7: 118,163,566 (GRCm39)	K110E	probably benign	Het
Tmem107	C	T	11: 68,963,399 (GRCm39)	P136L	probably benign	Het
Ttc21b	T	C	2: 66,061,563 (GRCm39)		probably null	Het
Ubd	A	C	17: 37,506,335 (GRCm39)	T74P	probably damaging	Het
Vps11	A	G	9: 44,269,486 (GRCm39)	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,376,448 (GRCm39)	T146A	probably benign	Het
Wdr38	G	T	2: 38,889,984 (GRCm39)		probably null	Het
Yes1	T	A	5: 32,841,969 (GRCm39)	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,569,323 (GRCm39)	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,635,949 (GRCm39)	V126A	possibly damaging	Het

Other mutations in Gm5930

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02480:Gm5930	APN	14	44,575,087 (GRCm39)	missense	probably benign	0.04
IGL02536:Gm5930	APN	14	44,575,015 (GRCm39)	missense	probably damaging	1.00
IGL03291:Gm5930	APN	14	44,568,905 (GRCm39)	missense	possibly damaging	0.73
R2219:Gm5930	UTSW	14	44,573,993 (GRCm39)	missense	probably damaging	1.00
R2355:Gm5930	UTSW	14	44,573,918 (GRCm39)	missense	probably damaging	0.99
R5466:Gm5930	UTSW	14	44,575,014 (GRCm39)	missense	probably damaging	1.00
R5592:Gm5930	UTSW	14	44,568,886 (GRCm39)	missense	probably benign	0.01
R6505:Gm5930	UTSW	14	44,568,828 (GRCm39)	makesense	probably null
R7292:Gm5930	UTSW	14	44,574,014 (GRCm39)	missense	probably damaging	1.00
R7338:Gm5930	UTSW	14	44,573,914 (GRCm39)	missense	probably damaging	1.00
R8232:Gm5930	UTSW	14	44,573,181 (GRCm39)	missense	probably damaging	0.99
R8693:Gm5930	UTSW	14	44,576,015 (GRCm39)	start codon destroyed	probably null	0.60
R9017:Gm5930	UTSW	14	44,568,858 (GRCm39)	missense	possibly damaging	0.86
R9115:Gm5930	UTSW	14	44,575,006 (GRCm39)	nonsense	probably null
R9558:Gm5930	UTSW	14	44,576,014 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGACCCATGCCTCAAGGGAG -3'
(R):5'- ATCAGTACCAATAGGACGAGTTGG -3'

Sequencing Primer
(F):5'- GGAGGGCTCCTATTAAGAAACAG -3'
(R):5'- TACCAATAGGACGAGTTGGAAGGAG -3'

Posted On

2019-06-07