Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Gm21994'

396984

Institutional Source

Beutler Lab

Gene Symbol

Gm21994

Ensembl Gene

ENSMUSG00000074735

Gene Name

predicted gene 21994

Synonyms

MMRRC Submission

042743-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150254518-150255591 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150255215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 98 (I98K)

Ref Sequence

ENSEMBL: ENSMUSP00000075719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063463] [ENSMUST00000109922]

AlphaFold

F6T2D2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063463
AA Change: I98K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: I98K

Domain	Start	End	E-Value	Type
ZnF_C2H2	1	18	2.7e2	SMART
ZnF_C2H2	53	73	2.75e1	SMART
ZnF_C2H2	77	99	6.42e-4	SMART
ZnF_C2H2	132	154	1.58e-3	SMART
ZnF_C2H2	160	182	1.12e-3	SMART
ZnF_C2H2	188	210	4.01e-5	SMART
ZnF_C2H2	216	238	3.16e-3	SMART
ZnF_C2H2	244	266	8.94e-3	SMART
ZnF_C2H2	272	294	9.58e-3	SMART
ZnF_C2H2	300	322	1.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109922

SMART Domains

Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008

Domain	Start	End	E-Value	Type
KRAB	4	66	9.26e-19	SMART
ZnF_C2H2	103	125	7.49e-5	SMART
ZnF_C2H2	131	151	9.46e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	6.67e-2	SMART
ZnF_C2H2	215	237	4.87e-4	SMART
ZnF_C2H2	243	265	2.82e0	SMART
ZnF_C2H2	271	293	2.2e2	SMART
ZnF_C2H2	299	321	1.4e-4	SMART
ZnF_C2H2	327	349	1.6e-4	SMART
ZnF_C2H2	355	377	1.18e-2	SMART
ZnF_C2H2	383	405	1.38e-3	SMART
ZnF_C2H2	411	433	9.56e1	SMART
ZnF_C2H2	439	461	6.99e-5	SMART
ZnF_C2H2	467	489	2.99e-4	SMART
ZnF_C2H2	495	517	7.78e-3	SMART
ZnF_C2H2	523	545	1.04e-3	SMART
ZnF_C2H2	551	573	1.6e-4	SMART
ZnF_C2H2	579	601	1.18e-2	SMART
ZnF_C2H2	607	629	4.54e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	1.2e-3	SMART
ZnF_C2H2	691	713	8.47e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	Het

Other mutations in Gm21994

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6648_Gm21994_337	UTSW	2	150255177	missense	probably benign	0.01
R0853:Gm21994	UTSW	2	150255478	missense	probably benign	0.30
R5135:Gm21994	UTSW	2	150255490	nonsense	probably null
R5782:Gm21994	UTSW	2	150255518	missense	probably benign	0.41
R6019:Gm21994	UTSW	2	150255212	missense	probably damaging	1.00
R6284:Gm21994	UTSW	2	150255278	missense	possibly damaging	0.95
R6476:Gm21994	UTSW	2	150255326	missense	probably benign	0.00
R6479:Gm21994	UTSW	2	150254591	missense	probably damaging	0.99
R6648:Gm21994	UTSW	2	150255177	missense	probably benign	0.01
R6736:Gm21994	UTSW	2	150255278	missense	possibly damaging	0.95
R6963:Gm21994	UTSW	2	150255345	missense	probably damaging	1.00
R7014:Gm21994	UTSW	2	150255262	nonsense	probably null
R7138:Gm21994	UTSW	2	150255452	missense	probably damaging	1.00
R7625:Gm21994	UTSW	2	150254600	missense	probably benign	0.05
R7855:Gm21994	UTSW	2	150255146	missense	probably benign	0.00
R8145:Gm21994	UTSW	2	150254535	missense	probably benign	0.00
R8284:Gm21994	UTSW	2	150255356	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGGTTTCTCTCCAGTATGTG -3'
(R):5'- TCAACTTGGGAAGAAAGCCTATG -3'

Sequencing Primer
(F):5'- TTCTCTCCAGTATGTGTTCTTTTATG -3'
(R):5'- GTGTCCAACATTGTGAAGCC -3'

Posted On

2016-06-21