Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Gm13089'

566793

Institutional Source

Beutler Lab

Gene Symbol

Gm13089

Ensembl Gene

ENSMUSG00000070617

Gene Name

predicted gene 13089

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143696500-143702711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143698505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 123 (D123Y)

Ref Sequence

ENSEMBL: ENSMUSP00000073224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073532]

AlphaFold

A2AGW7

Predicted Effect

probably benign
Transcript: ENSMUST00000073532
AA Change: D123Y

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: D123Y

Domain	Start	End	E-Value	Type
low complexity region	204	216	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,207,883	T51S	probably benign	Het
Abcc1	A	G	16: 14,396,472	D204G	possibly damaging	Het
Acaa1b	C	T	9: 119,151,847	E172K	probably benign	Het
Adamts5	G	A	16: 85,899,918	T117I	probably benign	Het
Agmat	A	G	4: 141,746,964	E52G	possibly damaging	Het
Alg9	C	T	9: 50,779,061	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,209,168	I100T	possibly damaging	Het
Calm2	T	C	17: 87,442,737		probably null	Het
Cfap44	A	T	16: 44,481,412	M1838L	probably benign	Het
Cym	A	G	3: 107,219,693	Y49H	probably benign	Het
Dchs1	G	A	7: 105,755,131	R2735*	probably null	Het
Dnajc6	T	C	4: 101,606,611	I187T	probably benign	Het
Fam151a	G	T	4: 106,735,528	R69L	possibly damaging	Het
Gm14548	T	A	7: 3,895,265	I353F	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Gm9922	C	A	14: 101,729,525	G97V	unknown	Het
Hacl1	A	T	14: 31,616,486	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv1-82	A	T	12: 115,952,954	I6N	possibly damaging	Het
Kctd19	A	C	8: 105,382,984	V942G	probably benign	Het
Lce1l	C	T	3: 92,850,176	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,448	F42S	probably damaging	Het
Myom2	T	C	8: 15,098,411	L529P	probably damaging	Het
Nectin3	A	T	16: 46,448,396	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1255	T	C	2: 89,816,521	F59S	probably damaging	Het
Olfr303	T	A	7: 86,394,923	T192S	probably damaging	Het
Otof	T	A	5: 30,388,270	I514F	probably damaging	Het
Plch1	G	T	3: 63,716,037	S603*	probably null	Het
Ppa1	T	A	10: 61,666,912	D171E	probably benign	Het
Prss34	T	C	17: 25,299,763	C240R	probably damaging	Het
Ptpre	A	G	7: 135,683,287	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,480,460	F157L	probably benign	Het
Rbbp6	A	G	7: 123,001,194	K1475E	unknown	Het
Retnlg	A	G	16: 48,872,874	N5D	probably benign	Het
Rev1	T	C	1: 38,053,104	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927	L360F	probably damaging	Het
Scrib	A	C	15: 76,064,761	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,621,320	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,662,144		probably benign	Het
Spag16	T	A	1: 69,919,426		probably null	Het
Stx3	C	T	19: 11,790,048	W87*	probably null	Het
Syngap1	T	A	17: 26,962,987	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,593,294	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,649,785	S54N	probably benign	Het
Tyk2	C	T	9: 21,108,860	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,915,416	V15A	probably benign	Het
Uhrf2	A	G	19: 30,088,549	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,800,771	I75N	probably benign	Het
Zfp346	T	G	13: 55,130,603	V258G	probably damaging	Het
Zfp72	T	A	13: 74,372,394	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,583,650	S848*	probably null	Het

Other mutations in Gm13089

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Gm13089	APN	4	143696840	utr 3 prime	probably benign
IGL02087:Gm13089	APN	4	143697074	missense	probably damaging	0.96
IGL02296:Gm13089	APN	4	143698481	nonsense	probably null
IGL02902:Gm13089	APN	4	143698343	missense	probably damaging	1.00
IGL02903:Gm13089	APN	4	143699166	missense	probably benign	0.04
IGL02962:Gm13089	APN	4	143697340	missense	probably benign	0.28
IGL03351:Gm13089	APN	4	143697088	missense	possibly damaging	0.80
R0122:Gm13089	UTSW	4	143698404	missense	probably benign	0.44
R0533:Gm13089	UTSW	4	143698020	nonsense	probably null
R0609:Gm13089	UTSW	4	143698503	missense	probably benign	0.00
R0743:Gm13089	UTSW	4	143698564	missense	probably damaging	0.97
R0744:Gm13089	UTSW	4	143698486	missense	probably benign	0.19
R0833:Gm13089	UTSW	4	143698486	missense	probably benign	0.19
R1052:Gm13089	UTSW	4	143696907	missense	possibly damaging	0.81
R1690:Gm13089	UTSW	4	143698123	missense	probably benign	0.03
R1764:Gm13089	UTSW	4	143698270	missense	probably benign	0.14
R1896:Gm13089	UTSW	4	143698144	missense	probably benign	0.11
R2084:Gm13089	UTSW	4	143699350	missense	probably damaging	1.00
R2178:Gm13089	UTSW	4	143698042	missense	possibly damaging	0.95
R2888:Gm13089	UTSW	4	143696890	missense	probably benign	0.00
R3759:Gm13089	UTSW	4	143697151	missense	probably damaging	1.00
R4193:Gm13089	UTSW	4	143698333	missense	probably damaging	1.00
R4380:Gm13089	UTSW	4	143698286	missense	probably benign	0.21
R4385:Gm13089	UTSW	4	143698014	critical splice donor site	probably null
R4513:Gm13089	UTSW	4	143698148	missense	probably benign	0.00
R4647:Gm13089	UTSW	4	143699344	missense	probably benign	0.00
R4920:Gm13089	UTSW	4	143699283	missense	probably benign	0.05
R4994:Gm13089	UTSW	4	143698369	missense	possibly damaging	0.94
R5197:Gm13089	UTSW	4	143698062	missense	possibly damaging	0.86
R6005:Gm13089	UTSW	4	143698432	missense	probably benign	0.00
R6073:Gm13089	UTSW	4	143698268	missense	probably damaging	0.99
R6197:Gm13089	UTSW	4	143697316	missense	possibly damaging	0.90
R6264:Gm13089	UTSW	4	143699152	missense	possibly damaging	0.50
R6821:Gm13089	UTSW	4	143699304	nonsense	probably null
R6923:Gm13089	UTSW	4	143699106	missense	probably benign	0.06
R7034:Gm13089	UTSW	4	143697328	missense	probably damaging	1.00
R7140:Gm13089	UTSW	4	143698432	missense	probably benign	0.01
R7529:Gm13089	UTSW	4	143702674
R7766:Gm13089	UTSW	4	143699239	missense	probably damaging	0.98
R7774:Gm13089	UTSW	4	143697106	missense	possibly damaging	0.89
R7816:Gm13089	UTSW	4	143698194	missense	probably benign	0.00
R8137:Gm13089	UTSW	4	143699265	missense	probably damaging	1.00
R8937:Gm13089	UTSW	4	143696992	missense	probably damaging	1.00
R8982:Gm13089	UTSW	4	143698316	missense	probably benign	0.01
R9016:Gm13089	UTSW	4	143697329	missense	possibly damaging	0.76
R9100:Gm13089	UTSW	4	143699157	missense	probably benign	0.04
R9200:Gm13089	UTSW	4	143697286	missense	possibly damaging	0.90
R9257:Gm13089	UTSW	4	143699115	missense	probably damaging	1.00
R9471:Gm13089	UTSW	4	143697179	missense	probably damaging	1.00
R9517:Gm13089	UTSW	4	143698360	missense	possibly damaging	0.95
Z1088:Gm13089	UTSW	4	143698080	missense	probably benign
Z1176:Gm13089	UTSW	4	143696945	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGTTGATTGAGCCCTGAATCTTC -3'
(R):5'- TTGATTCTAGGCACAGGAATAAGC -3'

Sequencing Primer
(F):5'- CTTCAGCTTTCTACAGCATAGATG -3'
(R):5'- GCTGAAGTGTGAAATGTGA -3'

Posted On

2019-06-26