Mutagenetix > Incidental Mutation

Incidental Mutation 'R1592:Zfp995'

175693

Institutional Source

Beutler Lab

Gene Symbol

Zfp995

Ensembl Gene

ENSMUSG00000078546

Gene Name

zinc finger protein 995

Synonyms

2210404O09Rik

MMRRC Submission

039629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22098551-22128907 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 22106321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000139581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106026] [ENSMUST00000190066]

AlphaFold

E9Q6M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000106026
AA Change: M1L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101647
Gene: ENSMUSG00000078546
AA Change: M1L

Domain	Start	End	E-Value	Type
KRAB	13	76	8.19e-20	SMART
ZnF_C2H2	183	205	8.81e-2	SMART
ZnF_C2H2	211	233	3.21e-4	SMART
ZnF_C2H2	239	261	4.72e-2	SMART
ZnF_C2H2	267	289	1.98e-4	SMART
ZnF_C2H2	295	317	5.59e-4	SMART
ZnF_C2H2	323	345	4.24e-4	SMART
ZnF_C2H2	351	373	9.73e-4	SMART
ZnF_C2H2	379	401	5.29e-5	SMART
ZnF_C2H2	407	429	8.02e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189719

Predicted Effect

probably damaging
Transcript: ENSMUST00000190066
AA Change: M1L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139581
Gene: ENSMUSG00000078546
AA Change: M1L

Domain	Start	End	E-Value	Type
KRAB	13	76	8.19e-20	SMART
ZnF_C2H2	183	205	8.81e-2	SMART
ZnF_C2H2	211	233	3.21e-4	SMART
ZnF_C2H2	239	261	4.72e-2	SMART
ZnF_C2H2	267	289	1.98e-4	SMART
ZnF_C2H2	295	317	5.59e-4	SMART
ZnF_C2H2	323	345	4.24e-4	SMART
ZnF_C2H2	351	373	9.73e-4	SMART
ZnF_C2H2	379	401	5.29e-5	SMART
ZnF_C2H2	407	429	8.02e-5	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,783,444 (GRCm39)	E327G	probably damaging	Het
Acp5	A	T	9: 22,039,147 (GRCm39)	W189R	probably damaging	Het
Adamts8	T	C	9: 30,854,472 (GRCm39)	S114P	probably damaging	Het
Alkbh3	A	C	2: 93,838,769 (GRCm39)		probably null	Het
Ankrd13d	T	C	19: 4,332,919 (GRCm39)	H27R	probably benign	Het
Aox1	A	G	1: 58,339,853 (GRCm39)	N382S	probably benign	Het
Aspg	G	A	12: 112,086,406 (GRCm39)	R220Q	probably benign	Het
Atg16l2	C	A	7: 100,941,193 (GRCm39)	G403V	probably damaging	Het
Bcat1	G	T	6: 144,955,784 (GRCm39)	Q299K	probably benign	Het
Cc2d1b	C	T	4: 108,483,868 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,091,684 (GRCm39)	F81S	probably damaging	Het
Cnbd2	A	G	2: 156,177,322 (GRCm39)	I222M	probably benign	Het
Ephb3	T	C	16: 21,040,450 (GRCm39)	V562A	probably damaging	Het
Fam186a	T	C	15: 99,838,199 (GRCm39)	T2682A	probably benign	Het
Fat2	T	C	11: 55,182,696 (GRCm39)		probably null	Het
Fat4	A	T	3: 39,061,326 (GRCm39)	D4303V	probably damaging	Het
Fbln1	T	A	15: 85,115,665 (GRCm39)	S234T	probably benign	Het
Gldc	G	A	19: 30,138,077 (GRCm39)		probably benign	Het
Gli1	A	C	10: 127,167,198 (GRCm39)	V685G	probably damaging	Het
H2-T22	T	C	17: 36,352,469 (GRCm39)	N152S	probably damaging	Het
Inpp5d	A	T	1: 87,593,254 (GRCm39)	D118V	possibly damaging	Het
Ints10	A	G	8: 69,255,555 (GRCm39)	I182V	possibly damaging	Het
Ipcef1	C	T	10: 6,885,182 (GRCm39)		probably null	Het
Kcnj3	G	T	2: 55,327,898 (GRCm39)	R229L	probably damaging	Het
Klf11	C	A	12: 24,703,737 (GRCm39)	D57E	probably damaging	Het
Krt73	G	T	15: 101,710,674 (GRCm39)	S20*	probably null	Het
Lactbl1	A	G	4: 136,363,187 (GRCm39)		probably null	Het
Mapk10	T	C	5: 103,186,487 (GRCm39)	D45G	possibly damaging	Het
Mfrp	G	A	9: 44,014,519 (GRCm39)	C222Y	probably damaging	Het
Mga	A	T	2: 119,795,147 (GRCm39)	I2944F	possibly damaging	Het
Msh2	A	G	17: 87,987,441 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,390,607 (GRCm39)		probably null	Het
Or5m9	A	G	2: 85,877,333 (GRCm39)	N169S	probably benign	Het
Pitpnm1	T	A	19: 4,156,964 (GRCm39)		probably null	Het
Sik2	C	T	9: 50,906,971 (GRCm39)	V85I	probably damaging	Het
Slc26a7	T	A	4: 14,552,470 (GRCm39)	E229V	probably benign	Het
Spty2d1	A	T	7: 46,648,637 (GRCm39)	D97E	possibly damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Uggt1	C	A	1: 36,241,939 (GRCm39)	A332S	probably benign	Het
Usp53	A	T	3: 122,727,699 (GRCm39)	L961*	probably null	Het
Vmn1r223	A	T	13: 23,433,837 (GRCm39)	T144S	possibly damaging	Het
Wdfy1	G	A	1: 79,683,972 (GRCm39)	R388C	probably damaging	Het

Other mutations in Zfp995

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01800:Zfp995	APN	17	22,099,972 (GRCm39)	missense	possibly damaging	0.64
experienced	UTSW	17	22,106,321 (GRCm39)	start codon destroyed	probably damaging	0.98
R2906_Zfp995_673	UTSW	17	22,099,247 (GRCm39)	missense	probably benign	0.00
wise	UTSW	17	22,099,493 (GRCm39)	missense	probably benign	0.06
R1164:Zfp995	UTSW	17	22,098,960 (GRCm39)	missense	probably damaging	1.00
R1167:Zfp995	UTSW	17	22,098,960 (GRCm39)	missense	probably damaging	1.00
R1669:Zfp995	UTSW	17	22,098,945 (GRCm39)	missense	probably benign	0.12
R1883:Zfp995	UTSW	17	22,099,622 (GRCm39)	missense	probably benign	0.00
R2044:Zfp995	UTSW	17	22,099,575 (GRCm39)	missense	probably damaging	1.00
R2906:Zfp995	UTSW	17	22,099,247 (GRCm39)	missense	probably benign	0.00
R4454:Zfp995	UTSW	17	22,098,932 (GRCm39)	missense	probably benign	0.17
R4670:Zfp995	UTSW	17	22,106,320 (GRCm39)	start codon destroyed	probably null	1.00
R5265:Zfp995	UTSW	17	22,099,604 (GRCm39)	missense	possibly damaging	0.55
R5393:Zfp995	UTSW	17	22,099,473 (GRCm39)	missense	probably benign	0.01
R5585:Zfp995	UTSW	17	22,106,339 (GRCm39)	splice site	probably benign
R5735:Zfp995	UTSW	17	22,101,010 (GRCm39)	missense	probably benign	0.05
R6243:Zfp995	UTSW	17	22,099,269 (GRCm39)	missense	probably damaging	1.00
R6318:Zfp995	UTSW	17	22,099,493 (GRCm39)	missense	probably benign	0.06
R7311:Zfp995	UTSW	17	22,099,641 (GRCm39)	missense	probably benign	0.01
R7472:Zfp995	UTSW	17	22,099,181 (GRCm39)	missense	probably damaging	1.00
R7529:Zfp995	UTSW	17	22,099,333 (GRCm39)	nonsense	probably null
R7765:Zfp995	UTSW	17	22,100,984 (GRCm39)	missense	probably damaging	1.00
R8156:Zfp995	UTSW	17	22,099,115 (GRCm39)	missense	probably damaging	1.00
R8995:Zfp995	UTSW	17	22,099,172 (GRCm39)	missense	probably benign	0.00
Z1176:Zfp995	UTSW	17	22,101,035 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AGGCTGTGCTTGTCCCATTTGAAG -3'
(R):5'- AATGCTCAGCATCCATGTTAGTCCC -3'

Sequencing Primer
(F):5'- GCTTGTCCCATTTGAAGTGAAAG -3'
(R):5'- GCCTATGACTCTAGTCCTTGAAAG -3'

Posted On

2014-04-24