Mutagenetix > Incidental Mutation

Incidental Mutation 'R1245:Zfp948'

152141

Institutional Source

Beutler Lab

Gene Symbol

Zfp948

Ensembl Gene

ENSMUSG00000067931

Gene Name

zinc finger protein 948

Synonyms

BC049807

MMRRC Submission

039312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21787270-21808961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21807104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000086166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088787]

AlphaFold

Q6DFU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000088787
AA Change: S99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086166
Gene: ENSMUSG00000067931
AA Change: S99P

Domain	Start	End	E-Value	Type
KRAB	13	72	1.04e-21	SMART
low complexity region	164	173	N/A	INTRINSIC
ZnF_C2H2	214	236	3.16e-3	SMART
ZnF_C2H2	242	264	9.58e-3	SMART
ZnF_C2H2	270	292	2.84e-5	SMART
ZnF_C2H2	298	320	8.22e-2	SMART
ZnF_C2H2	353	375	1.69e-3	SMART
ZnF_C2H2	381	403	9.88e-5	SMART
ZnF_C2H2	409	431	9.08e-4	SMART
ZnF_C2H2	437	459	2.2e-2	SMART
ZnF_C2H2	465	487	5.99e-4	SMART
ZnF_C2H2	493	515	8.47e-4	SMART
ZnF_C2H2	521	543	5.21e-4	SMART
ZnF_C2H2	549	571	9.73e-4	SMART
ZnF_C2H2	577	599	2.43e-4	SMART
ZnF_C2H2	605	627	2.91e-2	SMART
ZnF_C2H2	633	655	4.72e-2	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,119,410 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,981,533 (GRCm39)	N939S	probably benign	Het
Cblb	C	A	16: 51,867,550 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,569,308 (GRCm39)	S603P	probably damaging	Het
Col6a6	G	A	9: 105,626,109 (GRCm39)	R1515C	possibly damaging	Het
Csf1r	C	A	18: 61,247,884 (GRCm39)	D317E	probably benign	Het
Dlg2	T	C	7: 92,091,803 (GRCm39)		probably benign	Het
Enpp3	G	A	10: 24,660,851 (GRCm39)		probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gm5828	A	T	1: 16,839,353 (GRCm39)		noncoding transcript	Het
Gpr137c	T	C	14: 45,516,522 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,602,795 (GRCm39)		probably null	Het
Kctd7	A	G	5: 130,177,058 (GRCm39)	H96R	possibly damaging	Het
Lmcd1	T	A	6: 112,292,673 (GRCm39)	V175E	probably benign	Het
Lrfn2	A	T	17: 49,403,277 (GRCm39)		probably null	Het
Ltbp1	C	T	17: 75,634,189 (GRCm39)		probably benign	Het
Myc	A	G	15: 61,859,746 (GRCm39)	I140V	probably damaging	Het
Nckap1l	A	G	15: 103,364,352 (GRCm39)	E100G	probably damaging	Het
Ncs1	A	G	2: 31,174,705 (GRCm39)	N143S	probably benign	Het
Nmnat2	A	G	1: 152,987,949 (GRCm39)	D238G	probably benign	Het
Or10ag57	T	A	2: 87,218,553 (GRCm39)	V168E	probably benign	Het
Ppp2r3d	G	A	9: 101,071,593 (GRCm39)	T675I	probably damaging	Het
Psma2	A	G	13: 14,787,876 (GRCm39)	Y6C	probably damaging	Het
Rspo4	G	A	2: 151,709,846 (GRCm39)	E84K	probably damaging	Het
Shank2	G	A	7: 143,965,457 (GRCm39)	V1015I	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,974,436 (GRCm39)	D632G	possibly damaging	Het
Sppl2a	A	T	2: 126,755,441 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,066,427 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,776,044 (GRCm39)	K1666M	probably damaging	Het
Ulk1	A	G	5: 110,937,206 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,594,254 (GRCm39)	D1211G	possibly damaging	Het
Vmn2r112	A	G	17: 22,822,228 (GRCm39)	Q302R	probably benign	Het
Vmn2r6	A	G	3: 64,464,211 (GRCm39)	S208P	possibly damaging	Het
Wnk1	C	T	6: 119,925,418 (GRCm39)	V1847I	probably benign	Het
Zfp653	A	T	9: 21,967,718 (GRCm39)	I529N	probably damaging	Het
Zfyve9	A	G	4: 108,550,508 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,996,984 (GRCm39)	T246A	probably damaging	Het

Other mutations in Zfp948

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Zfp948	APN	17	21,807,333 (GRCm39)	missense	probably benign	0.01
R0212:Zfp948	UTSW	17	21,808,422 (GRCm39)	missense	probably benign	0.01
R0225:Zfp948	UTSW	17	21,807,556 (GRCm39)	missense	probably damaging	1.00
R0433:Zfp948	UTSW	17	21,807,764 (GRCm39)	missense	probably benign	0.02
R0437:Zfp948	UTSW	17	21,807,260 (GRCm39)	missense	unknown
R0490:Zfp948	UTSW	17	21,808,296 (GRCm39)	missense	probably benign	0.02
R1818:Zfp948	UTSW	17	21,805,069 (GRCm39)	missense	probably damaging	1.00
R2106:Zfp948	UTSW	17	21,807,953 (GRCm39)	nonsense	probably null
R3692:Zfp948	UTSW	17	21,807,838 (GRCm39)	missense	probably benign	0.01
R4767:Zfp948	UTSW	17	21,808,569 (GRCm39)	missense	possibly damaging	0.61
R5226:Zfp948	UTSW	17	21,808,505 (GRCm39)	missense	probably benign	0.00
R5753:Zfp948	UTSW	17	21,807,156 (GRCm39)	missense	probably damaging	0.97
R5766:Zfp948	UTSW	17	21,805,078 (GRCm39)	missense	probably benign	0.02
R5959:Zfp948	UTSW	17	21,807,776 (GRCm39)	missense	probably benign	0.01
R6167:Zfp948	UTSW	17	21,807,911 (GRCm39)	missense	probably benign	0.38
R6291:Zfp948	UTSW	17	21,807,286 (GRCm39)	missense	unknown
R6312:Zfp948	UTSW	17	21,807,429 (GRCm39)	missense	possibly damaging	0.56
R6482:Zfp948	UTSW	17	21,807,813 (GRCm39)	missense	probably benign	0.01
R7046:Zfp948	UTSW	17	21,808,719 (GRCm39)	missense	possibly damaging	0.80
R7053:Zfp948	UTSW	17	21,805,121 (GRCm39)	nonsense	probably null
R7207:Zfp948	UTSW	17	21,808,602 (GRCm39)	missense	possibly damaging	0.52
R7222:Zfp948	UTSW	17	21,808,102 (GRCm39)	missense	probably damaging	1.00
R7460:Zfp948	UTSW	17	21,808,677 (GRCm39)	missense	probably damaging	1.00
R7760:Zfp948	UTSW	17	21,808,628 (GRCm39)	missense	probably damaging	1.00
R7818:Zfp948	UTSW	17	21,807,985 (GRCm39)	missense	probably benign	0.14
RF011:Zfp948	UTSW	17	21,808,574 (GRCm39)	missense	probably damaging	0.97
X0023:Zfp948	UTSW	17	21,807,122 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTTACCTGCCAGGAGCAAATGAG -3'
(R):5'- GCAATGCTGGAAGATTTGAGACTGTG -3'

Sequencing Primer
(F):5'- ATCTGGGAACAAGCCCTATTG -3'
(R):5'- GTGTGTAGAGCTGAAATGGC -3'

Posted On

2014-01-29