Mutagenetix > Incidental Mutation

Incidental Mutation 'R0030:Gm7298'

15341

Institutional Source

Beutler Lab

Gene Symbol

Gm7298

Ensembl Gene

ENSMUSG00000108022

Gene Name

predicted gene 7298

Synonyms

MMRRC Submission

038324-MU

Accession Numbers

Essential gene?

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

Stock #

R0030 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121711454-121761598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121751009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 695 (F695L)

Ref Sequence

ENSEMBL: ENSMUSP00000145242 (fasta)

Gene Model

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

AlphaFold

A0A0N4SVU1

Predicted Effect

probably benign
Transcript: ENSMUST00000204124
AA Change: F695L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145242
Gene: ENSMUSG00000108022
AA Change: F695L

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: 78.5%
3x: 68.6%
10x: 42.5%
20x: 22.6%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	A	C	6: 140,583,473 (GRCm39)	S316R	probably damaging	Het
Brwd1	A	G	16: 95,822,456 (GRCm39)	S1250P	probably damaging	Het
Cacna1s	T	C	1: 136,022,727 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,269,762 (GRCm39)	E617*	probably null	Het
Cct4	T	C	11: 22,951,357 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,065,798 (GRCm39)	Q691*	probably null	Het
Crip1	G	A	12: 113,116,996 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,451,663 (GRCm39)	D4367V	probably benign	Het
Dock3	A	G	9: 106,789,512 (GRCm39)	V1514A	possibly damaging	Het
Eps15l1	A	G	8: 73,126,894 (GRCm39)	S646P	probably benign	Het
Faap24	A	T	7: 35,092,285 (GRCm39)	F211I	probably damaging	Het
Flrt3	A	T	2: 140,502,237 (GRCm39)	Y464N	probably damaging	Het
Foxi2	A	G	7: 135,013,345 (GRCm39)	T192A	probably damaging	Het
Ifnk	T	G	4: 35,152,489 (GRCm39)	V139G	probably benign	Het
Kif18a	A	T	2: 109,163,663 (GRCm39)	I671L	probably benign	Het
Lcn10	T	C	2: 25,575,093 (GRCm39)	F154L	probably damaging	Het
Med12l	T	G	3: 59,156,076 (GRCm39)	L1198R	probably damaging	Het
Mmp23	G	A	4: 155,735,768 (GRCm39)	R268*	probably null	Het
Mrps30	T	C	13: 118,519,531 (GRCm39)	D298G	possibly damaging	Het
Myh7	T	A	14: 55,229,427 (GRCm39)	T124S	probably benign	Het
Odf4	T	A	11: 68,817,767 (GRCm39)	E9D	probably benign	Het
Ptchd4	T	A	17: 42,627,999 (GRCm39)	C153*	probably null	Het
Scp2	T	A	4: 107,964,887 (GRCm39)		probably null	Het
Slc16a10	A	G	10: 39,952,819 (GRCm39)	V225A	probably benign	Het
Slc66a1	A	G	4: 139,033,764 (GRCm39)	S52P	probably damaging	Het
Tbk1	A	G	10: 121,397,529 (GRCm39)	V381A	probably benign	Het
Tdrd6	T	C	17: 43,937,482 (GRCm39)	K1189E	possibly damaging	Het
Ttc39a	C	A	4: 109,280,170 (GRCm39)	H151N	probably benign	Het
Ush2a	C	T	1: 188,554,854 (GRCm39)	T3544M	possibly damaging	Het
Vnn1	A	G	10: 23,776,744 (GRCm39)	H365R	probably benign	Het

Other mutations in Gm7298

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-17