Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Gm7298'

507001

Institutional Source

Beutler Lab

Gene Symbol

Gm7298

Ensembl Gene

ENSMUSG00000108022

Gene Name

predicted gene 7298

Synonyms

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121711454-121761598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121759663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1187 (R1187S)

Ref Sequence

ENSEMBL: ENSMUSP00000145242 (fasta)

Gene Model

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

AlphaFold

A0A0N4SVU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000204124
AA Change: R1187S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: R1187S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	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
R6268:Gm7298	UTSW	6	121,756,032 (GRCm39)	missense	possibly damaging	0.83
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'- ATGGGCTTTCTCAATCACAATCC -3'
(R):5'- AAACCACCAACCTGTGTGGAG -3'

Sequencing Primer
(F):5'- CACCAACTGGAGATTTTTACTGAGG -3'
(R):5'- CCATTGGAATTCTGCTGCTCTGTAAG -3'

Posted On

2018-03-15