Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Gm4871'

271890

Institutional Source

Beutler Lab

Gene Symbol

Gm4871

Ensembl Gene

ENSMUSG00000061707

Gene Name

predicted gene 4871

Synonyms

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

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

Stock #

R3778 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

144966410-144969564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144966893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 197 (S197P)

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: S197P

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

SMART Domains

Protein: ENSMUSP00000071368
Gene: ENSMUSG00000061707
AA Change: S197P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196439

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	probably benign	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
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
R7517:Gm4871	UTSW	5	144,969,430 (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'- ACCATGTCTGCAGCCTCATC -3'
(R):5'- TGCAGTCAGGAAAGATGTCTCAG -3'

Sequencing Primer
(F):5'- TACAGCCACATCTTCAGGTG -3'
(R):5'- TCAGGAAAGATGTCTCAGTGTGAG -3'

Posted On

2015-03-25