Mutagenetix > Incidental Mutation

Incidental Mutation 'R8310:Gm4922'

641332

Institutional Source

Beutler Lab

Gene Symbol

Gm4922

Ensembl Gene

ENSMUSG00000044624

Gene Name

predicted gene 4922

Synonyms

MMRRC Submission

067795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8310 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18655475-18662541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18659536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 395 (N395K)

Ref Sequence

ENSEMBL: ENSMUSP00000055273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055107]

AlphaFold

Q8C0N0

Predicted Effect

probably benign
Transcript: ENSMUST00000055107
AA Change: N395K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: N395K

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
S_TKc	28	275	1.92e-75	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	G	13: 48,667,727 (GRCm39)	W10G	unknown	Het
Abca13	A	T	11: 9,328,269 (GRCm39)	K3447N	possibly damaging	Het
Agtr1a	T	G	13: 30,565,745 (GRCm39)	V270G	probably benign	Het
Apob	A	T	12: 8,059,033 (GRCm39)	H2505L	probably benign	Het
Babam1	T	A	8: 71,850,629 (GRCm39)	V86D	possibly damaging	Het
Cacna1s	C	A	1: 136,015,075 (GRCm39)	N654K	probably damaging	Het
Ccdc146	A	T	5: 21,506,469 (GRCm39)		probably benign	Het
Ccdc8	T	C	7: 16,729,326 (GRCm39)	S272P	probably damaging	Het
Cnksr1	T	C	4: 133,956,730 (GRCm39)	E510G	probably damaging	Het
Cnot6l	A	T	5: 96,239,535 (GRCm39)	D255E	probably benign	Het
Ddx1	A	C	12: 13,274,280 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,492,650 (GRCm39)	T628A	probably benign	Het
Elavl1	A	T	8: 4,351,786 (GRCm39)	I110N	probably damaging	Het
Emilin2	C	G	17: 71,562,141 (GRCm39)	D954H	probably damaging	Het
Erich3	C	T	3: 154,410,586 (GRCm39)	T147I		Het
Galnt1	A	T	18: 24,404,686 (GRCm39)	H341L	probably damaging	Het
Gm14325	A	T	2: 177,473,592 (GRCm39)	C497S	probably damaging	Het
Hsd17b2	G	A	8: 118,469,155 (GRCm39)	C189Y	probably damaging	Het
Kcnn1	A	T	8: 71,305,449 (GRCm39)	S254T	possibly damaging	Het
Lce1l	G	C	3: 92,757,766 (GRCm39)	P31A	unknown	Het
Lrpprc	A	G	17: 85,080,524 (GRCm39)	Y199H	probably damaging	Het
Lrrtm3	A	T	10: 63,925,487 (GRCm39)		probably null	Het
Mon2	G	T	10: 122,838,688 (GRCm39)	A1598E	probably damaging	Het
Myh3	A	T	11: 66,986,833 (GRCm39)		probably null	Het
Naa11	A	T	5: 97,539,737 (GRCm39)	D140E	probably damaging	Het
Nadk2	G	A	15: 9,103,420 (GRCm39)	R350Q	probably benign	Het
Npc1	T	C	18: 12,326,455 (GRCm39)	I1162V	probably damaging	Het
Or4e1	A	G	14: 52,701,280 (GRCm39)	M62T	probably damaging	Het
Or5v1	T	C	17: 37,810,148 (GRCm39)	I202T	probably benign	Het
Otogl	A	T	10: 107,613,461 (GRCm39)	N2001K	possibly damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,171,912 (GRCm39)		probably null	Het
Ppp2r5c	A	T	12: 110,512,259 (GRCm39)	T185S	possibly damaging	Het
Psd2	A	T	18: 36,112,766 (GRCm39)	S154C	probably damaging	Het
Rnasel	G	A	1: 153,630,734 (GRCm39)	V417M	possibly damaging	Het
Slc35g2	A	G	9: 100,434,841 (GRCm39)	S277P	probably damaging	Het
Slc36a2	A	T	11: 55,070,158 (GRCm39)	W140R	possibly damaging	Het
Slc6a12	A	G	6: 121,340,250 (GRCm39)	K512E	probably damaging	Het
Sox7	C	T	14: 64,181,275 (GRCm39)	S24L	probably benign	Het
Specc1	A	G	11: 62,023,171 (GRCm39)	K659E	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Svs5	C	A	2: 164,080,091 (GRCm39)	G25W	probably damaging	Het
Syne1	A	G	10: 5,297,829 (GRCm39)	M1156T	probably benign	Het
Tars2	T	A	3: 95,658,271 (GRCm39)	I185F	probably benign	Het
Thsd7a	T	C	6: 12,396,612 (GRCm39)	I839V		Het
Vmn1r115	T	C	7: 20,578,819 (GRCm39)	N31S	probably damaging	Het
Vmn1r57	A	G	7: 5,224,024 (GRCm39)	D183G	probably damaging	Het
Wdr7	C	T	18: 63,868,756 (GRCm39)	T275I	probably damaging	Het
Ybx2	A	G	11: 69,831,194 (GRCm39)	E263G	probably damaging	Het
Zbtb6	G	T	2: 37,319,896 (GRCm39)	Q11K	probably benign	Het
Zfp329	A	T	7: 12,544,116 (GRCm39)	C469*	probably null	Het
Zfp868	A	T	8: 70,066,446 (GRCm39)	L40H	probably damaging	Het

Other mutations in Gm4922

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Gm4922	APN	10	18,659,795 (GRCm39)	missense	probably benign	0.20
IGL01818:Gm4922	APN	10	18,660,701 (GRCm39)	missense	unknown
IGL01931:Gm4922	APN	10	18,660,042 (GRCm39)	missense	probably benign	0.01
IGL02021:Gm4922	APN	10	18,660,225 (GRCm39)	missense	probably damaging	1.00
IGL02573:Gm4922	APN	10	18,659,423 (GRCm39)	missense	probably benign	0.05
IGL03305:Gm4922	APN	10	18,659,232 (GRCm39)	nonsense	probably null
R0149:Gm4922	UTSW	10	18,659,289 (GRCm39)	missense	probably benign	0.10
R0361:Gm4922	UTSW	10	18,659,289 (GRCm39)	missense	probably benign	0.10
R0564:Gm4922	UTSW	10	18,659,813 (GRCm39)	missense	possibly damaging	0.66
R1079:Gm4922	UTSW	10	18,660,086 (GRCm39)	missense	probably damaging	0.97
R1163:Gm4922	UTSW	10	18,659,469 (GRCm39)	missense	possibly damaging	0.83
R1164:Gm4922	UTSW	10	18,659,469 (GRCm39)	missense	possibly damaging	0.83
R1398:Gm4922	UTSW	10	18,659,496 (GRCm39)	missense	possibly damaging	0.65
R1458:Gm4922	UTSW	10	18,659,640 (GRCm39)	nonsense	probably null
R1867:Gm4922	UTSW	10	18,660,211 (GRCm39)	missense	possibly damaging	0.73
R1994:Gm4922	UTSW	10	18,659,388 (GRCm39)	missense	probably benign	0.10
R2146:Gm4922	UTSW	10	18,659,264 (GRCm39)	missense	probably benign
R2437:Gm4922	UTSW	10	18,659,829 (GRCm39)	missense	probably benign	0.00
R3551:Gm4922	UTSW	10	18,660,244 (GRCm39)	missense	probably benign	0.01
R3939:Gm4922	UTSW	10	18,660,362 (GRCm39)	missense	probably damaging	1.00
R4580:Gm4922	UTSW	10	18,659,432 (GRCm39)	missense	probably benign	0.00
R4602:Gm4922	UTSW	10	18,660,007 (GRCm39)	nonsense	probably null
R4704:Gm4922	UTSW	10	18,660,567 (GRCm39)	missense	probably benign	0.20
R4790:Gm4922	UTSW	10	18,659,916 (GRCm39)	missense	possibly damaging	0.58
R5478:Gm4922	UTSW	10	18,659,885 (GRCm39)	missense	probably benign
R5510:Gm4922	UTSW	10	18,659,745 (GRCm39)	missense	probably benign	0.00
R5694:Gm4922	UTSW	10	18,660,035 (GRCm39)	missense	possibly damaging	0.76
R6080:Gm4922	UTSW	10	18,660,500 (GRCm39)	missense	probably damaging	1.00
R6869:Gm4922	UTSW	10	18,660,263 (GRCm39)	missense	probably damaging	1.00
R6923:Gm4922	UTSW	10	18,659,616 (GRCm39)	missense	probably damaging	1.00
R7667:Gm4922	UTSW	10	18,660,096 (GRCm39)	missense	probably damaging	1.00
R8198:Gm4922	UTSW	10	18,659,340 (GRCm39)	missense	probably benign	0.00
R8270:Gm4922	UTSW	10	18,659,760 (GRCm39)	missense	probably benign	0.00
R9454:Gm4922	UTSW	10	18,660,329 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGATGCATGCTACAATTCTC -3'
(R):5'- AGCTGAGGCATGTCAGGATG -3'

Sequencing Primer
(F):5'- GGCATGAAGTTGAAGTCTCAC -3'
(R):5'- CATGTCAGGATGATGGCAATTATG -3'

Posted On

2020-07-28