Mutagenetix > Incidental Mutation

Incidental Mutation 'R5012:Zfp988'

390565

Institutional Source

Beutler Lab

Gene Symbol

Zfp988

Ensembl Gene

ENSMUSG00000078498

Gene Name

zinc finger protein 988

Synonyms

Gm13151

MMRRC Submission

042603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R5012 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

147390131-147418191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147416060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

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: I165V

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

SMART Domains

Protein: ENSMUSP00000120413
Gene: ENSMUSG00000078498
AA Change: I165V

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,767,217 (GRCm39)	T268K	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acsl1	A	G	8: 46,974,468 (GRCm39)	S314G	probably benign	Het
Aftph	G	A	11: 20,648,264 (GRCm39)		probably benign	Het
Ankrd34c	T	G	9: 89,611,709 (GRCm39)	I211L	probably benign	Het
Anks1b	A	G	10: 90,194,999 (GRCm39)	T560A	probably benign	Het
Carmil1	G	T	13: 24,208,403 (GRCm39)	S1247R	possibly damaging	Het
Elf1	T	A	14: 79,808,174 (GRCm39)	Y172N	probably damaging	Het
Emx1	C	T	6: 85,180,955 (GRCm39)	P224L	probably benign	Het
Fastkd2	A	T	1: 63,789,055 (GRCm39)		probably benign	Het
Fbxw27	C	A	9: 109,602,271 (GRCm39)	C234F	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Igkv6-23	C	A	6: 70,237,529 (GRCm39)	A71S	probably damaging	Het
Igsf10	A	G	3: 59,226,143 (GRCm39)	L2510P	probably damaging	Het
Itgal	T	C	7: 126,898,802 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,504,710 (GRCm39)	G122*	probably null	Het
Lamtor2	C	T	3: 88,460,163 (GRCm39)	R3H	possibly damaging	Het
Magi2	A	T	5: 20,670,618 (GRCm39)	T321S	probably damaging	Het
Mau2	A	G	8: 70,484,107 (GRCm39)		probably null	Het
Mcm7	A	T	5: 138,167,609 (GRCm39)		probably null	Het
Mitd1	A	T	1: 37,924,374 (GRCm39)	C59S	probably benign	Het
Muc6	A	G	7: 141,216,570 (GRCm39)	L2636P	possibly damaging	Het
Paip1	A	G	13: 119,584,338 (GRCm39)	M233V	probably benign	Het
Pcdhb11	C	A	18: 37,556,029 (GRCm39)	T453N	possibly damaging	Het
Plcb1	A	G	2: 135,175,320 (GRCm39)	N545S	probably null	Het
Prl8a9	A	T	13: 27,746,594 (GRCm39)		probably null	Het
Psmc2	A	G	5: 22,007,563 (GRCm39)	T308A	probably benign	Het
Rassf2	C	A	2: 131,851,610 (GRCm39)	R44L	probably damaging	Het
Scn11a	A	T	9: 119,609,944 (GRCm39)	M968K	probably benign	Het
Septin4	T	A	11: 87,475,230 (GRCm39)	S146T	possibly damaging	Het
Slc41a2	A	G	10: 83,137,127 (GRCm39)	I260T	probably benign	Het
Steap2	G	C	5: 5,727,784 (GRCm39)	L184V	possibly damaging	Het
Ttll5	G	A	12: 85,973,618 (GRCm39)	E776K	possibly damaging	Het
Vipr1	A	T	9: 121,487,111 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,448 (GRCm39)	S201P	probably damaging	Het
Zfp386	T	A	12: 116,022,864 (GRCm39)	I194K	probably benign	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
R2380: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
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'- AATGTCATTCTTGAATCCCTCCAGTG -3'
(R):5'- GATCTGATGGGTAAAGCATTTGTCAC -3'

Sequencing Primer
(F):5'- ACTAATCACAGCTCTGATGCTC -3'
(R):5'- TGGGTAAAGCATTTGTCACTTTTAC -3'

Posted On

2016-06-06