Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Gm7534'

598563

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 #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134190804-134203004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134195443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 526 (N526K)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

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

AlphaFold

Q3UU21

Predicted Effect

probably benign
Transcript: ENSMUST00000097849
AA Change: N526K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: N526K

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,239,191	A1287T	probably damaging	Het
Ahnak	A	G	19: 9,015,047	K4565R	probably damaging	Het
Asb13	A	G	13: 3,649,463	Y221C	probably damaging	Het
BB014433	C	T	8: 15,042,395	V153M	probably damaging	Het
Brip1	T	C	11: 86,062,024	E977G	probably benign	Het
C3	T	A	17: 57,215,797	D1029V	probably damaging	Het
Ccdc116	T	C	16: 17,139,591	E568G	probably benign	Het
Cdhr2	T	C	13: 54,718,275	V296A	probably damaging	Het
Cenpe	A	G	3: 135,240,941		probably null	Het
Cnot1	A	G	8: 95,765,125	V357A	probably damaging	Het
Coa3	A	T	11: 101,278,815	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,791,746	N255S	probably benign	Het
Cysrt1	T	C	2: 25,239,225	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,713,478	E52G	possibly damaging	Het
Derl1	T	C	15: 57,880,040	D97G	probably damaging	Het
Ebf3	A	G	7: 137,309,363	Y141H	probably damaging	Het
Eci1	T	A	17: 24,433,151	L49*	probably null	Het
Fam208a	A	G	14: 27,467,559	T923A	probably damaging	Het
Gzma	C	T	13: 113,098,295	C54Y	probably damaging	Het
Hydin	A	G	8: 110,565,085	N3403S	probably damaging	Het
Ide	T	C	19: 37,298,126	N495D		Het
Ighv1-23	T	A	12: 114,764,736	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,426,972	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,446,937	H272N	probably damaging	Het
Lrp6	C	T	6: 134,462,616	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,866,476	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,690,608	E121G	probably damaging	Het
Mzt1	A	T	14: 99,040,576	I52N	probably damaging	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr617	A	G	7: 103,584,090	I23V	probably benign	Het
Olfr857	T	A	9: 19,713,471	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,486,909	Y584S	possibly damaging	Het
Per3	A	T	4: 151,026,200	D380E	probably damaging	Het
Per3	A	T	4: 151,041,445	L139Q	probably damaging	Het
Pik3cg	T	C	12: 32,204,014	H658R	probably benign	Het
Pitpnm3	G	A	11: 72,061,488	Q626*	probably null	Het
Polr3e	T	C	7: 120,940,578	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,078	H866L	possibly damaging	Het
Rnf150	A	G	8: 82,864,203	E65G	probably benign	Het
Sema3f	C	A	9: 107,692,426	R100L	possibly damaging	Het
Smim18	T	C	8: 33,742,342	D83G	possibly damaging	Het
Snx13	T	A	12: 35,124,528	D685E	probably benign	Het
Stat5a	A	C	11: 100,863,219	N125T	probably benign	Het
Stk24	T	C	14: 121,337,633	E21G	probably damaging	Het
Tlr3	C	T	8: 45,403,039	V35I	probably benign	Het
Tmem8	T	C	17: 26,122,073	Y717H	probably damaging	Het
Tmprss11b	A	T	5: 86,661,695		probably null	Het
Trpm2	T	C	10: 77,932,179	I829V	probably benign	Het
Ttc37	A	G	13: 76,135,030	H792R	probably benign	Het
Ttc39a	T	C	4: 109,431,450	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,067,198		probably null	Het
Wdr73	G	A	7: 80,893,227	A211V	probably benign	Het
Zc3h4	T	C	7: 16,429,899	V673A	unknown	Het
Zfp382	A	G	7: 30,133,335	H137R	probably damaging	Het
Zp2	T	G	7: 120,143,642	D89A	probably damaging	Het
Zranb3	A	C	1: 128,032,868	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,712,980	V316I	probably damaging	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
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
R8992:Gm7534	UTSW	4	134202667	missense	probably damaging	0.99
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'- TATCTCACCACTCAAGGGCCTC -3'
(R):5'- TGAGGGGCTCACTCTTGTTC -3'

Sequencing Primer
(F):5'- GCTTATTCAGGAGTAAGCCCC -3'
(R):5'- GTTCCTCTCTGGATATAGCTCCATC -3'

Posted On

2019-11-26