Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Gm7298'

507152

Institutional Source

Beutler Lab

Gene Symbol

Gm7298

Ensembl Gene

ENSMUSG00000108022

Gene Name

predicted gene 7298

Synonyms

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R6268 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

121711454-121761598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121756032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 964 (T964A)

Ref Sequence

ENSEMBL: ENSMUSP00000145242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000204124]

AlphaFold

A0A0N4SVU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204124
AA Change: T964A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: T964A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:A2M_N	128	221	4e-18	PFAM
A2M_N_2	449	599	1e-45	SMART
A2M	740	830	2.1e-39	SMART
Pfam:Thiol-ester_cl	963	992	1.9e-15	PFAM
Pfam:A2M_comp	1012	1268	1.6e-90	PFAM
A2M_recep	1378	1465	4.3e-42	SMART

Meta Mutation Damage Score

0.1085

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly damaging	Het

Other mutations in Gm7298

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0030:Gm7298	UTSW	6	121,751,009 (GRCm39)	missense	probably benign
R4978:Gm7298	UTSW	6	121,710,076 (GRCm39)	critical splice donor site	probably null
R4980:Gm7298	UTSW	6	121,736,198 (GRCm39)	splice site	probably null
R6000:Gm7298	UTSW	6	121,742,038 (GRCm39)	missense	possibly damaging	0.91
R6160:Gm7298	UTSW	6	121,741,886 (GRCm39)	missense	probably benign	0.28
R6180:Gm7298	UTSW	6	121,737,782 (GRCm39)	missense	probably benign	0.01
R6243:Gm7298	UTSW	6	121,756,096 (GRCm39)	missense	possibly damaging	0.88
R6266:Gm7298	UTSW	6	121,759,663 (GRCm39)	missense	probably damaging	1.00
R6363:Gm7298	UTSW	6	121,765,565 (GRCm39)	missense	probably damaging	1.00
R6364:Gm7298	UTSW	6	121,756,402 (GRCm39)	missense	possibly damaging	0.90
R6527:Gm7298	UTSW	6	121,746,669 (GRCm39)	missense	probably benign	0.01
R6538:Gm7298	UTSW	6	121,753,132 (GRCm39)	missense	probably damaging	0.98
R6801:Gm7298	UTSW	6	121,752,768 (GRCm39)	missense	probably benign	0.03
R6884:Gm7298	UTSW	6	121,737,480 (GRCm39)	missense	possibly damaging	0.74
R6935:Gm7298	UTSW	6	121,744,653 (GRCm39)	missense	probably benign	0.02
R7051:Gm7298	UTSW	6	121,751,993 (GRCm39)	critical splice donor site	probably null
R7144:Gm7298	UTSW	6	121,738,546 (GRCm39)	missense	probably damaging	0.99
R7178:Gm7298	UTSW	6	121,762,855 (GRCm39)	missense	probably damaging	0.98
R7398:Gm7298	UTSW	6	121,758,912 (GRCm39)	missense	probably benign	0.02
R7706:Gm7298	UTSW	6	121,712,570 (GRCm39)	missense	probably damaging	0.96
R7793:Gm7298	UTSW	6	121,737,563 (GRCm39)	critical splice donor site	probably null
R7829:Gm7298	UTSW	6	121,742,297 (GRCm39)	missense	probably damaging	1.00
R7877:Gm7298	UTSW	6	121,759,741 (GRCm39)	nonsense	probably null
R8010:Gm7298	UTSW	6	121,712,542 (GRCm39)	missense	probably benign
R8167:Gm7298	UTSW	6	121,761,414 (GRCm39)	nonsense	probably null
R8188:Gm7298	UTSW	6	121,763,537 (GRCm39)	critical splice acceptor site	probably null
R8248:Gm7298	UTSW	6	121,764,402 (GRCm39)	missense	probably benign	0.02
R8669:Gm7298	UTSW	6	121,742,002 (GRCm39)	missense	probably benign
R8806:Gm7298	UTSW	6	121,761,641 (GRCm39)	synonymous	silent
R8867:Gm7298	UTSW	6	121,748,788 (GRCm39)	missense	probably benign
R8907:Gm7298	UTSW	6	121,741,817 (GRCm39)	missense	probably benign	0.10
R8930:Gm7298	UTSW	6	121,742,030 (GRCm39)	missense	probably benign	0.01
R8932:Gm7298	UTSW	6	121,742,030 (GRCm39)	missense	probably benign	0.01
R8947:Gm7298	UTSW	6	121,757,553 (GRCm39)	missense	possibly damaging	0.62
R9016:Gm7298	UTSW	6	121,758,800 (GRCm39)	missense	possibly damaging	0.96
R9040:Gm7298	UTSW	6	121,764,438 (GRCm39)	missense	probably benign	0.20
R9069:Gm7298	UTSW	6	121,761,393 (GRCm39)	missense	probably benign
R9154:Gm7298	UTSW	6	121,756,436 (GRCm39)	missense	probably damaging	1.00
R9273:Gm7298	UTSW	6	121,756,604 (GRCm39)	intron	probably benign
R9371:Gm7298	UTSW	6	121,744,541 (GRCm39)	missense	probably benign	0.02
R9372:Gm7298	UTSW	6	121,748,746 (GRCm39)	missense	probably benign	0.21
R9490:Gm7298	UTSW	6	121,751,083 (GRCm39)	missense	probably benign	0.00
R9649:Gm7298	UTSW	6	121,764,491 (GRCm39)	missense	probably damaging	1.00
Z1176:Gm7298	UTSW	6	121,741,834 (GRCm39)	missense	possibly damaging	0.48
Z1176:Gm7298	UTSW	6	121,741,829 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATTCACTAACACTGCCCTGC -3'
(R):5'- GAGTTTCTGAGCCTTACTGACC -3'

Sequencing Primer
(F):5'- GCTTACAAACTATTACACTTGATCGC -3'
(R):5'- CTTACTGACCAGCTCTGAGGAAG -3'

Posted On

2018-03-15