Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Gm7534'

684467

Institutional Source

Beutler Lab

Gene Symbol

Gm7534

Ensembl Gene

ENSMUSG00000073747

Gene Name

predicted gene 7534

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134190804-134203004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134202667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 109 (T109I)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097849]

AlphaFold

Q3UU21

Predicted Effect

probably damaging
Transcript: ENSMUST00000097849
AA Change: T109I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: T109I

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
internal_repeat_1	21	111	5.47e-40	PROSPERO
low complexity region	112	143	N/A	INTRINSIC
low complexity region	158	177	N/A	INTRINSIC
internal_repeat_1	181	271	5.47e-40	PROSPERO
low complexity region	322	334	N/A	INTRINSIC
ZP	368	618	3.21e-13	SMART
low complexity region	650	668	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,451,618	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282	D4E	probably benign	Het
Atpif1	T	C	4: 132,533,374	D34G	probably benign	Het
Bcr	T	C	10: 75,131,572	F546S	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc141	A	T	2: 77,014,395	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589	D1375G	probably damaging	Het
Chil1	A	T	1: 134,187,924	Q223H	probably benign	Het
Clcn2	A	T	16: 20,712,330	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,235	D464V	probably benign	Het
Crygb	T	C	1: 65,082,141	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,925,390	K438E	unknown	Het
Cyp46a1	A	T	12: 108,358,107	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,776,756		probably benign	Het
Dnase2b	G	T	3: 146,586,962	P152Q	probably damaging	Het
Duox1	A	T	2: 122,344,705	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam168b	A	G	1: 34,819,781	F102L	probably benign	Het
Fam3b	T	A	16: 97,476,394	D128V	probably damaging	Het
Galnt11	T	G	5: 25,264,985	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,610,969	R460S	probably benign	Het
Hdhd2	A	C	18: 76,970,670	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,401,114	M189T	probably damaging	Het
Ino80	A	G	2: 119,379,578	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,117,538	T467A	probably benign	Het
Kcnh2	A	G	5: 24,331,870	S239P	probably benign	Het
Lct	T	A	1: 128,300,562	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,629,884	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,871,490	D26E	probably benign	Het
Myh1	A	T	11: 67,205,781	M333L	probably benign	Het
Neurl4	T	C	11: 69,908,132	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,306,865	V80D	probably damaging	Het
Nop9	T	C	14: 55,745,981	S70P	possibly damaging	Het
Olfr325	A	G	11: 58,580,912	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,449,178	D446Y	probably damaging	Het
Pclo	C	T	5: 14,669,311	A1154V	unknown	Het
Pdgfa	G	T	5: 138,986,222	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,075,533	L1133F	probably damaging	Het
Pole	A	T	5: 110,323,622	N1411Y	possibly damaging	Het
Primpol	A	G	8: 46,581,562		probably benign	Het
Psmc5	T	G	11: 106,261,961	V203G	probably damaging	Het
Ptgdr	C	T	14: 44,858,724	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,907,295	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,690,081	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,454,277	T857A	probably damaging	Het
Rnf24	A	G	2: 131,313,277	F10S	possibly damaging	Het
Rreb1	C	A	13: 37,930,376	S570R	probably benign	Het
Rttn	A	G	18: 88,977,708	N205S	probably benign	Het
Rusc1	T	C	3: 89,092,058	E139G	probably benign	Het
Scn2a	A	G	2: 65,763,898	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 107,047,177	M209L	probably damaging	Het
Shank3	A	G	15: 89,548,685	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,542,484	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,336,942	W548*	probably null	Het
Srfbp1	T	A	18: 52,476,320	L59*	probably null	Het
Ss18	A	T	18: 14,670,323	S73T	probably damaging	Het
Syne1	T	C	10: 5,185,508	K189R	probably benign	Het
Szt2	G	T	4: 118,382,788		probably benign	Het
Tbx1	T	A	16: 18,584,187	H183L	probably damaging	Het
Thop1	A	G	10: 81,080,138	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,850	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559	Y513H	probably damaging	Het
Top1	A	G	2: 160,721,001	D709G	probably damaging	Het
Tprgl	A	C	4: 154,158,433	S247A	probably damaging	Het
Trim46	A	G	3: 89,236,385	S602P	probably damaging	Het
Ttc30a1	A	T	2: 75,979,907	C611S	probably benign	Het
Ttc7b	T	C	12: 100,500,174	K60E	probably benign	Het
Ttn	G	A	2: 76,884,471	S8053F	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp24	T	A	4: 106,377,565	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Xpc	G	A	6: 91,500,974	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,349,599	M129I	probably benign	Het

Other mutations in Gm7534

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Gm7534	APN	4	134201980	missense	probably benign	0.27
IGL03170:Gm7534	APN	4	134193034	missense	possibly damaging	0.57
FR4342:Gm7534	UTSW	4	134202631	small insertion	probably benign
FR4976:Gm7534	UTSW	4	134202630	small insertion	probably benign
R0487:Gm7534	UTSW	4	134202778	missense	probably damaging	0.97
R0530:Gm7534	UTSW	4	134202910	missense	probably benign
R0553:Gm7534	UTSW	4	134202518	missense	possibly damaging	0.85
R1121:Gm7534	UTSW	4	134202937	missense	probably benign	0.00
R1458:Gm7534	UTSW	4	134196833	missense	probably benign	0.01
R1748:Gm7534	UTSW	4	134200299	missense	probably damaging	1.00
R1748:Gm7534	UTSW	4	134202119	missense	possibly damaging	0.57
R1913:Gm7534	UTSW	4	134192675	critical splice donor site	probably null
R2029:Gm7534	UTSW	4	134202358	missense	possibly damaging	0.87
R2069:Gm7534	UTSW	4	134201941	missense	possibly damaging	0.63
R2237:Gm7534	UTSW	4	134202205	missense	unknown
R2239:Gm7534	UTSW	4	134202205	missense	unknown
R3943:Gm7534	UTSW	4	134200345	missense	probably benign	0.15
R4646:Gm7534	UTSW	4	134202148	missense	probably benign	0.00
R4673:Gm7534	UTSW	4	134200347	missense	probably benign	0.01
R4838:Gm7534	UTSW	4	134193099	missense	probably benign	0.04
R5002:Gm7534	UTSW	4	134196920	missense	probably benign	0.09
R5593:Gm7534	UTSW	4	134193039	missense	probably damaging	0.99
R5606:Gm7534	UTSW	4	134200212	missense	probably benign	0.13
R6553:Gm7534	UTSW	4	134202056	missense	probably damaging	0.99
R6834:Gm7534	UTSW	4	134193165	missense	possibly damaging	0.95
R6931:Gm7534	UTSW	4	134193153	missense	probably benign	0.28
R7526:Gm7534	UTSW	4	134200073	splice site	probably null
R7771:Gm7534	UTSW	4	134195443	missense	probably benign	0.01
R8271:Gm7534	UTSW	4	134202967	missense	unknown
R8725:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8727:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8757:Gm7534	UTSW	4	134202971	missense	unknown
R8966:Gm7534	UTSW	4	134202401	missense	probably damaging	0.98
R9039:Gm7534	UTSW	4	134195547	missense	probably damaging	0.98
R9275:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9278:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9434:Gm7534	UTSW	4	134202242	missense	probably benign	0.01
R9458:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9460:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9461:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9480:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9481:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9551:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9552:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9553:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
RF015:Gm7534	UTSW	4	134193027	missense	probably benign
T0975:Gm7534	UTSW	4	134202629	small insertion	probably benign
Z1176:Gm7534	UTSW	4	134200338	missense	possibly damaging	0.90
Z1176:Gm7534	UTSW	4	134202677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCCAGTTCCAGATGACAGG -3'
(R):5'- AACCTTTACACATGACAACTGTGAC -3'

Sequencing Primer
(F):5'- CAGTTCCAGATGACAGGATGGC -3'
(R):5'- GTGACAATTAGGGACACCTCTTC -3'

Posted On

2021-10-11