Mutagenetix > Incidental Mutation

Incidental Mutation 'R7986:Gm29106'

651464

Institutional Source

Beutler Lab

Gene Symbol

Gm29106

Ensembl Gene

ENSMUSG00000102030

Gene Name

predicted gene 29106

Synonyms

MMRRC Submission

046027-MU

Accession Numbers

Essential gene?

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

Stock #

R7986 (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 T at 118128000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 564 (H564L)

Ref Sequence

ENSEMBL: ENSMUSP00000141137 (fasta)

Gene Model

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

AlphaFold

A0A087WSP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186264
AA Change: H564L

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141137
Gene: ENSMUSG00000102030
AA Change: H564L

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	G	T	16: 85,596,435 (GRCm39)	A401D	probably damaging	Het
Akap10	C	T	11: 61,820,890 (GRCm39)	G5R	probably damaging	Het
Arhgap21	A	C	2: 20,867,967 (GRCm39)	L1023W	probably damaging	Het
Bpifb4	A	G	2: 153,799,650 (GRCm39)	N339S	probably benign	Het
Btbd17	A	G	11: 114,683,341 (GRCm39)	Y124H	probably damaging	Het
Cacna1a	C	G	8: 85,365,408 (GRCm39)	R2184G	probably benign	Het
Cavin1	A	G	11: 100,861,102 (GRCm39)	I64T	probably damaging	Het
Cby3	A	G	11: 50,250,106 (GRCm39)	H9R	possibly damaging	Het
Ccdc141	A	G	2: 76,845,461 (GRCm39)	L1202P	probably benign	Het
Cd109	A	G	9: 78,596,048 (GRCm39)	I794V	possibly damaging	Het
Col12a1	C	T	9: 79,511,674 (GRCm39)		probably null	Het
Col6a2	A	G	10: 76,450,972 (GRCm39)	L23P	probably benign	Het
Csf1r	A	G	18: 61,247,904 (GRCm39)	H324R	probably benign	Het
D430041D05Rik	A	G	2: 104,087,096 (GRCm39)	S627P	probably damaging	Het
Dffb	G	A	4: 154,054,504 (GRCm39)	S195F	probably damaging	Het
Fstl5	T	A	3: 76,337,097 (GRCm39)	Y219N	probably damaging	Het
Gpt2	T	A	8: 86,235,839 (GRCm39)	C158*	probably null	Het
Grin1	G	T	2: 25,185,841 (GRCm39)	A872D	probably damaging	Het
Hoxa1	T	C	6: 52,135,018 (GRCm39)	S62G	probably benign	Het
Krt28	T	C	11: 99,257,651 (GRCm39)	N397D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Llgl1	G	T	11: 60,602,221 (GRCm39)	A755S	probably benign	Het
Lmod2	A	G	6: 24,603,448 (GRCm39)	E141G	possibly damaging	Het
Loxhd1	A	T	18: 77,462,890 (GRCm39)	T910S	possibly damaging	Het
Masp2	A	G	4: 148,687,283 (GRCm39)	Y55C	probably damaging	Het
Nek10	A	C	14: 15,001,020 (GRCm38)	S1067R	probably benign	Het
Nemp2	C	T	1: 52,669,981 (GRCm39)	A22V	probably benign	Het
Npy2r	T	A	3: 82,448,803 (GRCm39)		probably null	Het
Nr1h4	A	T	10: 89,290,634 (GRCm39)	S469T	possibly damaging	Het
Nr4a3	T	C	4: 48,055,954 (GRCm39)	Y327H	probably damaging	Het
Or10ag52	A	G	2: 87,043,922 (GRCm39)	I229V	probably benign	Het
Or5an1b	C	T	19: 12,300,102 (GRCm39)	V30I	probably benign	Het
Pramel26	A	T	4: 143,538,590 (GRCm39)	L127*	probably null	Het
Prss1l	T	C	6: 41,373,058 (GRCm39)	I110T	probably damaging	Het
Ptpdc1	G	A	13: 48,746,046 (GRCm39)	A118V	probably damaging	Het
Raph1	T	C	1: 60,535,445 (GRCm39)	Y73C		Het
Rtl1	A	G	12: 109,558,492 (GRCm39)	S1116P	possibly damaging	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Setd5	T	C	6: 113,105,418 (GRCm39)	S817P	probably benign	Het
Sirt6	A	G	10: 81,458,344 (GRCm39)	L303P	probably benign	Het
Slc46a2	G	T	4: 59,911,858 (GRCm39)	F451L	probably benign	Het
Sorbs1	T	A	19: 40,353,449 (GRCm39)	I219F	probably damaging	Het
Tmem178	A	G	17: 81,308,273 (GRCm39)	I223V	possibly damaging	Het
Trps1	T	G	15: 50,525,132 (GRCm39)	T933P	probably damaging	Het
Trps1	A	G	15: 50,753,019 (GRCm39)	F16S	probably benign	Het
Virma	T	A	4: 11,540,023 (GRCm39)	S1447R	probably benign	Het
Vmn1r230	T	C	17: 21,067,119 (GRCm39)	Y103H	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ybx3	T	A	6: 131,356,362 (GRCm39)	R170*	probably null	Het
Zfp423	T	C	8: 88,506,978 (GRCm39)	D1122G	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
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
R9212:Gm29106	UTSW	1	118,127,270 (GRCm39)	missense	probably damaging	1.00
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'- TACATACTGGAGACAAACCTTACAAA -3'
(R):5'- CTCCAGTATGTAATCTGTGGTGAA -3'

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

Posted On

2020-09-15