Mutagenetix > Incidental Mutation

Incidental Mutation 'R9212:Gm29106'

698920

Institutional Source

Beutler Lab

Gene Symbol

Gm29106

Ensembl Gene

ENSMUSG00000102030

Gene Name

predicted gene 29106

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R9212 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118104272-118130037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118127270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 321 (R321G)

Ref Sequence

ENSEMBL: ENSMUSP00000141137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186264]

AlphaFold

A0A087WSP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000186264
AA Change: R321G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141137
Gene: ENSMUSG00000102030
AA Change: R321G

Domain	Start	End	E-Value	Type
KRAB	8	66	2.8e-24	SMART
ZnF_C2H2	77	97	2.3e-2	SMART
ZnF_C2H2	105	127	4.5e-6	SMART
ZnF_C2H2	133	155	3.4e-6	SMART
ZnF_C2H2	161	183	3.2e-7	SMART
ZnF_C2H2	189	211	2.1e-4	SMART
ZnF_C2H2	217	239	6.3e-7	SMART
ZnF_C2H2	245	267	3.4e-6	SMART
ZnF_C2H2	273	295	3.2e-7	SMART
ZnF_C2H2	301	323	2.1e-4	SMART
ZnF_C2H2	329	351	6.3e-7	SMART
ZnF_C2H2	357	379	2.1e-4	SMART
ZnF_C2H2	385	407	7.8e-5	SMART
ZnF_C2H2	413	435	1.1e-7	SMART
ZnF_C2H2	441	463	4e-5	SMART
ZnF_C2H2	469	491	1.3e-6	SMART
ZnF_C2H2	497	519	2.4e-6	SMART
ZnF_C2H2	525	547	2.3e-4	SMART
ZnF_C2H2	553	575	1.4e-4	SMART
ZnF_C2H2	581	603	1.9e-6	SMART
ZnF_C2H2	609	631	5.2e-5	SMART
ZnF_C2H2	637	659	1.7e-5	SMART
ZnF_C2H2	665	687	9.4e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Actn3	T	C	19: 4,914,565 (GRCm39)	D521G	probably benign	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Asb18	T	C	1: 89,880,447 (GRCm39)	T453A	probably benign	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cdh24	T	A	14: 54,878,679 (GRCm39)		probably benign	Het
Cfap57	T	A	4: 118,436,649 (GRCm39)	I916F	possibly damaging	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cit	A	T	5: 116,013,952 (GRCm39)	I222F	possibly damaging	Het
Clip1	T	A	5: 123,721,399 (GRCm39)	K1165N	probably damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnah14	G	A	1: 181,628,852 (GRCm39)	V4123M	possibly damaging	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fzd6	A	G	15: 38,898,289 (GRCm39)	H543R	probably damaging	Het
Gad2	T	A	2: 22,571,399 (GRCm39)	C446S	probably damaging	Het
Gon4l	T	C	3: 88,803,730 (GRCm39)	V1447A	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Kifap3	C	T	1: 163,610,600 (GRCm39)	L27F	probably damaging	Het
Lancl2	A	C	6: 57,714,673 (GRCm39)	I431L	probably benign	Het
Ltbp2	G	A	12: 84,839,824 (GRCm39)	P1069S	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Nppc	G	T	1: 86,597,619 (GRCm39)	Q50K	possibly damaging	Het
Or2a51	T	A	6: 43,178,756 (GRCm39)	Y59*	probably null	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Papolg	T	C	11: 23,823,817 (GRCm39)	T334A	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rnf17	T	C	14: 56,761,785 (GRCm39)	V1616A	probably damaging	Het
Rph3a	T	A	5: 121,086,005 (GRCm39)	H477L	possibly damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Sbsn	A	G	7: 30,452,427 (GRCm39)	N481D	probably benign	Het
Sf3a3	G	A	4: 124,621,921 (GRCm39)	E354K	possibly damaging	Het
Slc15a2	A	C	16: 36,602,053 (GRCm39)	Y81*	probably null	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Spata31h1	T	C	10: 82,118,979 (GRCm39)	N4677S	possibly damaging	Het
Stxbp2	G	C	8: 3,686,220 (GRCm39)	K313N		Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Tubgcp3	A	G	8: 12,691,200 (GRCm39)	V446A	possibly damaging	Het
Unc93b1	G	A	19: 3,993,557 (GRCm39)	R333Q	probably damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Wdr62	G	A	7: 29,942,563 (GRCm39)	S1015L	probably damaging	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp974	A	G	7: 27,610,052 (GRCm39)	S558P	possibly damaging	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het

Other mutations in Gm29106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4985:Gm29106	UTSW	1	118,126,950 (GRCm39)	missense	probably benign	0.02
R4991:Gm29106	UTSW	1	118,106,121 (GRCm39)	missense	probably benign	0.01
R6029:Gm29106	UTSW	1	118,127,990 (GRCm39)	missense	probably damaging	1.00
R6922:Gm29106	UTSW	1	118,127,524 (GRCm39)	missense	probably damaging	0.98
R6954:Gm29106	UTSW	1	118,128,317 (GRCm39)	missense	probably damaging	1.00
R6961:Gm29106	UTSW	1	118,128,128 (GRCm39)	nonsense	probably null
R7232:Gm29106	UTSW	1	118,127,291 (GRCm39)	missense	probably damaging	1.00
R7337:Gm29106	UTSW	1	118,104,642 (GRCm39)	missense	unknown
R7457:Gm29106	UTSW	1	118,126,982 (GRCm39)	missense	probably damaging	1.00
R7662:Gm29106	UTSW	1	118,127,137 (GRCm39)	missense	possibly damaging	0.89
R7870:Gm29106	UTSW	1	118,126,885 (GRCm39)	missense	possibly damaging	0.55
R7894:Gm29106	UTSW	1	118,127,265 (GRCm39)	missense	probably damaging	1.00
R7986:Gm29106	UTSW	1	118,128,000 (GRCm39)	missense	possibly damaging	0.62
R8099:Gm29106	UTSW	1	118,126,521 (GRCm39)	missense	probably benign	0.00
R8377:Gm29106	UTSW	1	118,126,593 (GRCm39)	missense	probably damaging	0.99
R8498:Gm29106	UTSW	1	118,128,218 (GRCm39)	missense	probably damaging	1.00
R8553:Gm29106	UTSW	1	118,128,149 (GRCm39)	missense	probably damaging	1.00
R8980:Gm29106	UTSW	1	118,127,114 (GRCm39)	missense	possibly damaging	0.86
R9451:Gm29106	UTSW	1	118,127,644 (GRCm39)	missense	possibly damaging	0.66
R9746:Gm29106	UTSW	1	118,127,254 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTACCAAGTCCTCAAATCTTAAAGTT -3'
(R):5'- AGTACCGGGTAAATGATTTCTCACA -3'

Sequencing Primer
(F):5'- GTTCACCACAGATTACATACTGGAG -3'
(R):5'- CTCCAGTATGTAATCTGAGGTGAAC -3'

Posted On

2022-02-07