Mutagenetix > Incidental Mutation

Incidental Mutation 'R7517:Gm4871'

582514

Institutional Source

Beutler Lab

Gene Symbol

Gm4871

Ensembl Gene

ENSMUSG00000061707

Gene Name

predicted gene 4871

Synonyms

MMRRC Submission

045590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7517 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144966410-144969564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144969430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 30 (R30S)

Ref Sequence

ENSEMBL: ENSMUSP00000071368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071421] [ENSMUST00000151196]

AlphaFold

D3Z0W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071421
AA Change: R30S

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

SMART Domains

Protein: ENSMUSP00000071368
Gene: ENSMUSG00000061707
AA Change: R30S

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	62	153	2.4e-10	PFAM
low complexity region	166	186	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
low complexity region	260	285	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151196

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	A	T	14: 31,437,331 (GRCm39)	V578E	possibly damaging	Het
Arhgap35	A	T	7: 16,296,132 (GRCm39)	C978S	probably benign	Het
Asph	A	T	4: 9,517,697 (GRCm39)	V475E	probably damaging	Het
Atf7ip2	T	A	16: 10,059,399 (GRCm39)		probably null	Het
Bace1	A	T	9: 45,771,559 (GRCm39)	D491V	probably benign	Het
Birc2	A	G	9: 7,819,424 (GRCm39)	I496T	probably benign	Het
Cacna2d4	C	T	6: 119,248,882 (GRCm39)	R448C	probably benign	Het
Ccdc181	T	C	1: 164,107,989 (GRCm39)	F224S	probably damaging	Het
Cdan1	C	T	2: 120,558,405 (GRCm39)	R469Q	probably damaging	Het
Ddx21	G	A	10: 62,424,569 (GRCm39)	P544L	probably damaging	Het
Epas1	C	A	17: 87,138,526 (GRCm39)	T874N	possibly damaging	Het
Fam13b	A	T	18: 34,627,660 (GRCm39)	D180E	probably damaging	Het
Fcgbp	G	A	7: 27,784,794 (GRCm39)	V285M	probably damaging	Het
Gcn1	T	G	5: 115,757,755 (GRCm39)	L2487V	probably benign	Het
Gm19410	C	T	8: 36,240,772 (GRCm39)	A216V	possibly damaging	Het
Gtf2ird1	T	C	5: 134,391,379 (GRCm39)	D899G	probably benign	Het
Hipk3	T	C	2: 104,265,059 (GRCm39)	T674A	probably benign	Het
Hnrnph3	A	G	10: 62,854,674 (GRCm39)	L39S	unknown	Het
Ift122	T	C	6: 115,867,543 (GRCm39)	V431A	probably benign	Het
Il36b	A	G	2: 24,049,890 (GRCm39)	H167R	probably benign	Het
Lce3e	T	A	3: 92,875,142 (GRCm39)	C33S	unknown	Het
Lrrc26	T	C	2: 25,180,545 (GRCm39)	I182T	probably benign	Het
Magi1	T	C	6: 93,685,189 (GRCm39)	R730G	probably damaging	Het
Meis3	G	T	7: 15,911,743 (GRCm39)	V102F	probably damaging	Het
Mpp7	G	A	18: 7,440,183 (GRCm39)	Q263*	probably null	Het
Myo7b	A	T	18: 32,146,320 (GRCm39)	I155N	probably damaging	Het
Nrip1	A	T	16: 76,088,072 (GRCm39)	*1162K	probably null	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or4k50-ps1	T	C	2: 111,522,444 (GRCm39)	F194L	unknown	Het
Or8i2	A	C	2: 86,852,486 (GRCm39)	V134G	probably benign	Het
Pdik1l	T	A	4: 134,005,736 (GRCm39)	E326V	possibly damaging	Het
Phrf1	T	C	7: 140,836,523 (GRCm39)	M265T	unknown	Het
Piezo2	A	T	18: 63,215,996 (GRCm39)	N1222K	possibly damaging	Het
Pkd1	G	A	17: 24,799,393 (GRCm39)	V2871M	probably damaging	Het
Pon2	T	G	6: 5,268,997 (GRCm39)	N226H	possibly damaging	Het
Rftn2	G	T	1: 55,234,708 (GRCm39)	D338E	probably damaging	Het
Rnf123	A	T	9: 107,947,473 (GRCm39)	Y171*	probably null	Het
Ror2	A	T	13: 53,264,901 (GRCm39)	N730K	possibly damaging	Het
Serpinb6c	T	A	13: 34,079,278 (GRCm39)	N138I	probably damaging	Het
Smco1	A	T	16: 32,092,785 (GRCm39)	H152L	possibly damaging	Het
Tgm3	T	G	2: 129,883,684 (GRCm39)	S447R	probably benign	Het
Topbp1	A	G	9: 103,209,932 (GRCm39)	K860E	possibly damaging	Het
Uba7	C	A	9: 107,853,897 (GRCm39)		probably benign	Het
Ucp3	A	G	7: 100,131,089 (GRCm39)	N181D	probably damaging	Het
Unc13b	C	A	4: 43,215,765 (GRCm39)	S21R	probably benign	Het
Usp34	T	A	11: 23,396,968 (GRCm39)	S2395R		Het

Other mutations in Gm4871

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Gm4871	APN	5	144,967,170 (GRCm39)	intron	probably benign
IGL02073:Gm4871	APN	5	144,969,388 (GRCm39)	nonsense	probably null
R0471:Gm4871	UTSW	5	144,968,402 (GRCm39)	intron	probably benign
R1905:Gm4871	UTSW	5	144,966,859 (GRCm39)	missense	probably damaging	1.00
R2079:Gm4871	UTSW	5	144,966,741 (GRCm39)	missense	possibly damaging	0.81
R3008:Gm4871	UTSW	5	144,966,627 (GRCm39)	missense	probably damaging	0.99
R3778:Gm4871	UTSW	5	144,966,893 (GRCm39)	missense	probably damaging	1.00
R5274:Gm4871	UTSW	5	144,967,180 (GRCm39)	missense	probably damaging	0.99
R5487:Gm4871	UTSW	5	144,967,199 (GRCm39)	missense	probably damaging	1.00
R7397:Gm4871	UTSW	5	144,969,508 (GRCm39)	missense	probably damaging	1.00
R7788:Gm4871	UTSW	5	144,969,420 (GRCm39)	missense	probably benign	0.25
R8104:Gm4871	UTSW	5	144,969,012 (GRCm39)	missense	probably damaging	1.00
R8802:Gm4871	UTSW	5	144,966,876 (GRCm39)	missense	probably benign	0.34
R9087:Gm4871	UTSW	5	144,969,088 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TACGGAAAGTCTGGCTCCTG -3'
(R):5'- CTCGTGGAACTCATGATGCTGG -3'

Sequencing Primer
(F):5'- GTCTGAGAGACATCAGCAATCC -3'
(R):5'- GGAACTCATGATGCTGGTTACC -3'

Posted On

2019-10-17