Mutagenetix > Incidental Mutation

Incidental Mutation 'R9304:Gm14412'

705103

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R9304 (G1)

Quality Score

152.008

Status

Not validated

Chromosome

Chromosomal Location

177006313-177016100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177007547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108959]

AlphaFold

A2ARR7

Predicted Effect

probably benign
Transcript: ENSMUST00000108959
AA Change: D116G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: D116G

Domain	Start	End	E-Value	Type
KRAB	4	66	1.54e-15	SMART
ZnF_C2H2	103	125	1.12e-3	SMART
ZnF_C2H2	131	153	2.15e-5	SMART
ZnF_C2H2	159	181	5.59e-4	SMART
ZnF_C2H2	187	209	1.98e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	6.52e-5	SMART
ZnF_C2H2	271	293	1.12e-3	SMART
ZnF_C2H2	299	321	5.59e-4	SMART
ZnF_C2H2	327	349	4.87e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	9.08e-4	SMART
ZnF_C2H2	411	433	4.87e-4	SMART
ZnF_C2H2	439	461	6.88e-4	SMART
ZnF_C2H2	467	489	4.61e-5	SMART
ZnF_C2H2	495	517	8.02e-5	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	G	3: 36,536,072 (GRCm39)	K113E	unknown	Het
4930486L24Rik	T	C	13: 61,001,352 (GRCm39)	Y125C	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam28	A	T	14: 68,874,946 (GRCm39)	Y244N	probably damaging	Het
Ap3b2	T	C	7: 81,113,019 (GRCm39)	D944G	unknown	Het
Asb2	G	A	12: 103,302,225 (GRCm39)	P108S	probably damaging	Het
Cachd1	A	G	4: 100,824,179 (GRCm39)	Y540C	possibly damaging	Het
Ccdc40	A	G	11: 119,122,597 (GRCm39)	Q63R	probably benign	Het
Cdhr5	G	A	7: 140,851,474 (GRCm39)	P610L	probably benign	Het
Cep350	T	C	1: 155,829,464 (GRCm39)	K87E	probably damaging	Het
Csmd3	T	C	15: 47,569,805 (GRCm39)	D1206G		Het
Diaph3	T	C	14: 87,328,448 (GRCm39)	E98G	possibly damaging	Het
Dmbt1	A	T	7: 130,700,855 (GRCm39)	E1185V	unknown	Het
Enpp2	C	T	15: 54,815,969 (GRCm39)	R65H	probably damaging	Het
Gapdh	A	G	6: 125,139,819 (GRCm39)	V195A	probably benign	Het
Gucy2e	A	T	11: 69,126,560 (GRCm39)	D273E	probably benign	Het
Gulp1	A	T	1: 44,793,593 (GRCm39)	K85*	probably null	Het
Htra3	A	G	5: 35,836,515 (GRCm39)	V59A	probably benign	Het
Iars2	A	T	1: 185,055,400 (GRCm39)	Y244*	probably null	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Il18r1	A	G	1: 40,510,893 (GRCm39)		probably benign	Het
Mical2	A	G	7: 111,980,974 (GRCm39)	D316G	probably damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Or2ag1b	A	T	7: 106,288,880 (GRCm39)	D19E	probably benign	Het
Prob1	C	A	18: 35,787,708 (GRCm39)	G182V	probably damaging	Het
Psmb9	A	G	17: 34,406,222 (GRCm39)		probably null	Het
Pudp	T	A	18: 50,701,670 (GRCm39)	D21V	probably damaging	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Rpf2	A	G	10: 40,119,850 (GRCm39)		probably null	Het
Sbk2	A	G	7: 4,960,507 (GRCm39)	I221T	probably damaging	Het
Slc10a1	G	A	12: 81,004,957 (GRCm39)	T195I	probably benign	Het
Spata31h1	G	T	10: 82,131,930 (GRCm39)	P360Q	probably benign	Het
Speer1k	G	A	5: 10,998,949 (GRCm39)	R29Q		Het
Stom	A	G	2: 35,211,697 (GRCm39)	V108A	possibly damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trdn	G	T	10: 33,181,087 (GRCm39)		probably null	Het
Trmt61a	T	A	12: 111,647,437 (GRCm39)	V178D	possibly damaging	Het
Trpv4	C	A	5: 114,782,702 (GRCm39)	E87*	probably null	Het
Ttc6	T	C	12: 57,776,117 (GRCm39)	F1687S	probably damaging	Het
Urb2	T	C	8: 124,757,247 (GRCm39)	F985L	probably benign	Het
Vdac3	T	A	8: 23,070,568 (GRCm39)	K114N	probably damaging	Het
Zfp260	T	C	7: 29,804,279 (GRCm39)	S60P	possibly damaging	Het
Zkscan4	T	A	13: 21,665,570 (GRCm39)	S182T	possibly damaging	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177,007,479 (GRCm39)	missense	probably benign
R0124:Gm14412	UTSW	2	177,007,705 (GRCm39)	splice site	probably benign
R0507:Gm14412	UTSW	2	177,006,325 (GRCm39)	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177,007,583 (GRCm39)	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177,007,630 (GRCm39)	missense	probably benign	0.03
R1908:Gm14412	UTSW	2	177,007,269 (GRCm39)	missense	probably damaging	1.00
R2026:Gm14412	UTSW	2	177,008,898 (GRCm39)	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177,009,229 (GRCm39)	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177,006,993 (GRCm39)	missense	unknown
R3946:Gm14412	UTSW	2	177,006,478 (GRCm39)	nonsense	probably null
R4430:Gm14412	UTSW	2	177,007,625 (GRCm39)	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177,006,352 (GRCm39)	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177,007,005 (GRCm39)	missense	unknown
R4928:Gm14412	UTSW	2	177,006,373 (GRCm39)	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177,006,908 (GRCm39)	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177,006,405 (GRCm39)	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177,007,402 (GRCm39)	nonsense	probably null
R6173:Gm14412	UTSW	2	177,006,330 (GRCm39)	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177,006,347 (GRCm39)	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177,009,133 (GRCm39)	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177,009,138 (GRCm39)	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177,007,408 (GRCm39)	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177,009,189 (GRCm39)	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177,007,660 (GRCm39)	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177,007,590 (GRCm39)	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177,007,111 (GRCm39)	missense	unknown
R9098:Gm14412	UTSW	2	177,006,356 (GRCm39)	missense	probably damaging	1.00
R9699:Gm14412	UTSW	2	177,007,636 (GRCm39)	nonsense	probably null
RF001:Gm14412	UTSW	2	177,008,894 (GRCm39)	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177,007,494 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGCAAAGGCTTTTCCACATTGATT -3'
(R):5'- TCCCATTTCATGTACCCTCAAAGATG -3'

Sequencing Primer
(F):5'- AGGCTTTTCCACATTGATTACATTC -3'
(R):5'- TCATGTACCCTCAAAGATGTAAAAC -3'

Posted On

2022-03-25