Mutagenetix > Incidental Mutation

Incidental Mutation 'R5766:Zfp948'

446304

Institutional Source

Beutler Lab

Gene Symbol

Zfp948

Ensembl Gene

ENSMUSG00000067931

Gene Name

zinc finger protein 948

Synonyms

BC049807

MMRRC Submission

044424-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21787270-21808961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21805078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 23 (S23P)

Ref Sequence

ENSEMBL: ENSMUSP00000086166 (fasta)

Gene Model

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

AlphaFold

Q6DFU8

Predicted Effect

probably benign
Transcript: ENSMUST00000088787
AA Change: S23P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000086166
Gene: ENSMUSG00000067931
AA Change: S23P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,182,439 (GRCm39)	V343A	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 37,461,383 (GRCm39)		probably null	Het
Arid2	A	G	15: 96,270,086 (GRCm39)	T1400A	probably benign	Het
Arrdc1	G	A	2: 24,816,417 (GRCm39)	T184I	probably damaging	Het
Aspm	T	C	1: 139,406,740 (GRCm39)	F1876L	probably damaging	Het
Calhm1	C	T	19: 47,132,142 (GRCm39)	V158I	probably benign	Het
Caly	T	C	7: 139,650,310 (GRCm39)	K211E	probably benign	Het
Cenpe	T	C	3: 134,954,174 (GRCm39)	L1677P	probably damaging	Het
Cttnbp2	A	G	6: 18,381,032 (GRCm39)	V1388A	possibly damaging	Het
Dgkd	C	T	1: 87,808,171 (GRCm39)	R80*	probably null	Het
Dnah3	A	T	7: 119,577,445 (GRCm39)	I2072N	probably damaging	Het
Dnah8	A	G	17: 30,909,235 (GRCm39)	I1020M	probably benign	Het
Drc3	T	C	11: 60,284,647 (GRCm39)	V484A	probably benign	Het
Efcab8	A	G	2: 153,622,912 (GRCm39)	D27G	possibly damaging	Het
Fat4	G	A	3: 38,943,617 (GRCm39)	G837R	probably damaging	Het
Fcgbpl1	G	A	7: 27,836,754 (GRCm39)	W224*	probably null	Het
Fgb	A	T	3: 82,953,483 (GRCm39)	C96S	probably damaging	Het
Flt4	G	C	11: 49,517,513 (GRCm39)	W278C	possibly damaging	Het
Fmnl2	T	C	2: 52,991,466 (GRCm39)	V327A	probably damaging	Het
Fras1	A	T	5: 96,879,548 (GRCm39)	Y2455F	possibly damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm13872	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Hoxa6	A	G	6: 52,185,394 (GRCm39)	S71P	probably benign	Het
Hunk	T	A	16: 90,250,627 (GRCm39)	C148S	probably damaging	Het
Ighv1-18	A	C	12: 114,646,527 (GRCm39)	S26A	probably damaging	Het
Impg2	T	G	16: 56,080,183 (GRCm39)	D553E	possibly damaging	Het
Ints1	A	G	5: 139,757,900 (GRCm39)	I266T	probably benign	Het
Kpna3	G	T	14: 61,640,463 (GRCm39)	T33K	probably benign	Het
Lamb1	A	G	12: 31,349,930 (GRCm39)	D622G	probably damaging	Het
Lamp3	T	C	16: 19,520,067 (GRCm39)	T39A	probably damaging	Het
Mnt	C	T	11: 74,733,904 (GRCm39)		probably benign	Het
Msh4	A	G	3: 153,573,477 (GRCm39)	S726P	probably damaging	Het
Or13a25	T	A	7: 140,247,266 (GRCm39)	V22E	probably benign	Het
Pah	A	C	10: 87,403,209 (GRCm39)	K195Q	probably damaging	Het
Pdc	T	A	1: 150,209,251 (GRCm39)	*245K	probably null	Het
Pdzd8	A	T	19: 59,288,972 (GRCm39)	H809Q	possibly damaging	Het
Plekhd1	A	T	12: 80,769,140 (GRCm39)	I467L	probably benign	Het
Ppp2ca	A	G	11: 52,004,014 (GRCm39)	D57G	probably damaging	Het
Ralgapa1	A	T	12: 55,867,551 (GRCm39)	M1K	probably null	Het
Rfx2	T	A	17: 57,110,587 (GRCm39)	D133V	probably benign	Het
Scfd2	A	T	5: 74,623,312 (GRCm39)	L407Q	probably damaging	Het
Scp2d1	T	A	2: 144,665,957 (GRCm39)	S99T	possibly damaging	Het
Sec63	A	T	10: 42,677,677 (GRCm39)	N261I	probably damaging	Het
Slc8a1	T	C	17: 81,956,390 (GRCm39)	Y216C	probably damaging	Het
Son	T	A	16: 91,461,875 (GRCm39)		probably benign	Het
Syce1	T	C	7: 140,357,894 (GRCm39)	E285G	probably damaging	Het
Taar7a	G	T	10: 23,869,260 (GRCm39)	S40R	probably benign	Het
Ube3a	A	T	7: 58,925,807 (GRCm39)	D216V	possibly damaging	Het
Vgll2	A	G	10: 51,903,659 (GRCm39)	D174G	probably damaging	Het
Vmn2r17	A	T	5: 109,575,139 (GRCm39)	T149S	possibly damaging	Het
Zbtb39	G	T	10: 127,578,557 (GRCm39)	C377F	probably damaging	Het
Zfp820	T	A	17: 22,038,983 (GRCm39)	N115I	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
R1245:Zfp948	UTSW	17	21,807,104 (GRCm39)	missense	probably damaging	1.00
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
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'- CACAGAGTTTGAACATTCACTACAG -3'
(R):5'- GCTGCTTACTAGAGAGTTTACAAGC -3'

Sequencing Primer
(F):5'- GATGGTGTCCAATAACAATGT -3'
(R):5'- ATTCTCCACCATCACGTCA -3'

Posted On

2016-11-21