Mutagenetix > Incidental Mutation

Incidental Mutation 'R2380:Zfp988'

328533

Institutional Source

Beutler Lab

Gene Symbol

Zfp988

Ensembl Gene

ENSMUSG00000078498

Gene Name

zinc finger protein 988

Synonyms

Gm13151

MMRRC Submission

040356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R2380 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147390131-147418191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 147417242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 559 (K559Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148762] [ENSMUST00000166764]

AlphaFold

F6VKC7

Predicted Effect

probably benign
Transcript: ENSMUST00000148762
AA Change: K559Q

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

SMART Domains

Protein: ENSMUSP00000120413
Gene: ENSMUSG00000078498
AA Change: K559Q

Domain	Start	End	E-Value	Type
KRAB	13	76	4.74e-16	SMART
ZnF_C2H2	240	262	2.61e-4	SMART
ZnF_C2H2	268	290	1.3e-4	SMART
ZnF_C2H2	296	318	9.73e-4	SMART
ZnF_C2H2	324	346	7.78e-3	SMART
ZnF_C2H2	352	374	1.3e-4	SMART
ZnF_C2H2	380	402	8.34e-3	SMART
ZnF_C2H2	408	430	2.79e-4	SMART
ZnF_C2H2	436	458	3.74e-5	SMART
ZnF_C2H2	464	486	1.3e-4	SMART
ZnF_C2H2	492	514	1.5e-4	SMART
ZnF_C2H2	520	542	2.43e-4	SMART
ZnF_C2H2	548	570	9.73e-4	SMART
ZnF_C2H2	576	598	1.56e-2	SMART
ZnF_C2H2	604	626	2.53e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181752

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,036 (GRCm39)	S978P	possibly damaging	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Ampd3	C	T	7: 110,399,917 (GRCm39)	T344M	probably damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	C	T	1: 139,407,086 (GRCm39)	A1991V	probably damaging	Het
Axdnd1	A	T	1: 156,193,221 (GRCm39)	D655E	probably benign	Het
Bdp1	T	C	13: 100,196,878 (GRCm39)	H1169R	probably benign	Het
Cacna1s	T	C	1: 136,023,586 (GRCm39)	F942L	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Csmd1	A	G	8: 16,240,101 (GRCm39)	C1104R	probably damaging	Het
Dhrs7c	G	A	11: 67,706,690 (GRCm39)	V283M	probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Enpp3	T	C	10: 24,652,770 (GRCm39)	E729G	probably benign	Het
Fam169a	T	A	13: 97,255,043 (GRCm39)		probably benign	Het
Gvin-ps3	T	C	7: 105,681,374 (GRCm39)	E627G	possibly damaging	Het
Hmcn1	T	A	1: 150,441,135 (GRCm39)	M5374L	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Itgae	A	G	11: 73,036,395 (GRCm39)	E1111G	probably benign	Het
Kcmf1	A	G	6: 72,835,755 (GRCm39)		probably null	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Lig1	T	C	7: 13,037,722 (GRCm39)		probably benign	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Ncor2	A	G	5: 125,113,144 (GRCm39)	V1216A	possibly damaging	Het
Or52e3	A	T	7: 102,869,815 (GRCm39)	T297S	possibly damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp5c	A	G	7: 16,740,040 (GRCm39)	Y434H	probably damaging	Het
Pwwp2b	A	G	7: 138,835,366 (GRCm39)	E269G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Utp6	A	G	11: 79,826,831 (GRCm39)	S582P	possibly damaging	Het
Zbtb41	T	C	1: 139,351,552 (GRCm39)	S222P	probably damaging	Het

Other mutations in Zfp988

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Zfp988	APN	4	147,416,125 (GRCm39)	nonsense	probably null
R1672:Zfp988	UTSW	4	147,415,739 (GRCm39)	missense	probably benign
R1834:Zfp988	UTSW	4	147,417,344 (GRCm39)	missense	probably damaging	0.97
R2324:Zfp988	UTSW	4	147,417,242 (GRCm39)	missense	probably benign
R3795:Zfp988	UTSW	4	147,416,040 (GRCm39)	missense	possibly damaging	0.51
R3945:Zfp988	UTSW	4	147,417,242 (GRCm39)	missense	probably benign
R4024:Zfp988	UTSW	4	147,417,242 (GRCm39)	missense	probably benign
R5012:Zfp988	UTSW	4	147,416,060 (GRCm39)	missense	probably benign
R5059:Zfp988	UTSW	4	147,416,372 (GRCm39)	nonsense	probably null
R6008:Zfp988	UTSW	4	147,416,259 (GRCm39)	missense	probably benign	0.16
R6245:Zfp988	UTSW	4	147,416,470 (GRCm39)	nonsense	probably null
R6549:Zfp988	UTSW	4	147,416,310 (GRCm39)	missense	probably benign	0.03
R7658:Zfp988	UTSW	4	147,416,751 (GRCm39)	missense	probably damaging	1.00
R8309:Zfp988	UTSW	4	147,416,765 (GRCm39)	missense	probably damaging	0.99
R8439:Zfp988	UTSW	4	147,416,808 (GRCm39)	missense	probably benign	0.01
R9159:Zfp988	UTSW	4	147,416,450 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ATGCAATGAATGTGGCAAATGC -3'
(R):5'- ACTGTTACAGTCTAGGAAATAGGCC -3'

Sequencing Primer
(F):5'- GCAATGAATGTGGCAAATGCTTTAC -3'
(R):5'- TGAATACCAAGATGGAATTTTCGGG -3'

Posted On

2015-07-08