Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Zfp975'

183243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp975

Ensembl Gene

ENSMUSG00000069727

Gene Name

zinc finger protein 975

Synonyms

Gm5595

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

42309529-42342166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42312215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 133 (C133S)

Ref Sequence

ENSEMBL: ENSMUSP00000103626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107992]

AlphaFold

Q6NVD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000107992
AA Change: C133S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103626
Gene: ENSMUSG00000069727
AA Change: C133S

Domain	Start	End	E-Value	Type
KRAB	4	66	1.53e-19	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	9.73e-4	SMART
ZnF_C2H2	187	209	1.47e-3	SMART
ZnF_C2H2	215	237	3.89e-3	SMART
ZnF_C2H2	243	265	2.57e-3	SMART
ZnF_C2H2	271	293	7.26e-3	SMART
ZnF_C2H2	299	321	1.58e-3	SMART
ZnF_C2H2	327	349	7.9e-4	SMART
ZnF_C2H2	355	377	5.9e-3	SMART
ZnF_C2H2	383	405	1.58e-3	SMART
ZnF_C2H2	411	433	6.32e-3	SMART
ZnF_C2H2	439	461	8.47e-4	SMART
ZnF_C2H2	467	489	2.57e-3	SMART
ZnF_C2H2	495	517	3.16e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Zfp975

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0194:Zfp975	UTSW	7	42,311,916 (GRCm39)	missense	probably benign	0.02
R0662:Zfp975	UTSW	7	42,311,950 (GRCm39)	missense	probably benign	0.02
R1491:Zfp975	UTSW	7	42,312,236 (GRCm39)	missense	probably benign	0.19
R1573:Zfp975	UTSW	7	42,311,507 (GRCm39)	missense	probably benign	0.03
R1738:Zfp975	UTSW	7	42,312,373 (GRCm39)	missense	probably benign	0.05
R1833:Zfp975	UTSW	7	42,311,263 (GRCm39)	missense	probably benign	0.01
R2185:Zfp975	UTSW	7	42,311,105 (GRCm39)	missense	possibly damaging	0.90
R4031:Zfp975	UTSW	7	42,312,377 (GRCm39)	nonsense	probably null
R4090:Zfp975	UTSW	7	42,312,298 (GRCm39)	missense	probably benign	0.10
R4356:Zfp975	UTSW	7	42,311,251 (GRCm39)	missense	probably damaging	1.00
R4631:Zfp975	UTSW	7	42,312,369 (GRCm39)	missense	probably benign	0.09
R4795:Zfp975	UTSW	7	42,314,570 (GRCm39)	critical splice acceptor site	probably null
R4896:Zfp975	UTSW	7	42,311,716 (GRCm39)	missense	probably damaging	1.00
R5266:Zfp975	UTSW	7	42,311,654 (GRCm39)	missense	probably damaging	1.00
R5267:Zfp975	UTSW	7	42,311,654 (GRCm39)	missense	probably damaging	1.00
R5580:Zfp975	UTSW	7	42,314,513 (GRCm39)	nonsense	probably null
R5874:Zfp975	UTSW	7	42,312,312 (GRCm39)	missense	probably benign	0.00
R5898:Zfp975	UTSW	7	42,311,963 (GRCm39)	missense	probably damaging	1.00
R6529:Zfp975	UTSW	7	42,311,325 (GRCm39)	missense	possibly damaging	0.79
R6782:Zfp975	UTSW	7	42,311,454 (GRCm39)	missense	probably benign	0.41
R6937:Zfp975	UTSW	7	42,314,480 (GRCm39)	missense	possibly damaging	0.61
R7088:Zfp975	UTSW	7	42,312,096 (GRCm39)	missense	probably benign	0.02
R7233:Zfp975	UTSW	7	42,311,918 (GRCm39)	missense	probably benign	0.38
R7253:Zfp975	UTSW	7	42,311,036 (GRCm39)	makesense	probably null
R7358:Zfp975	UTSW	7	42,312,215 (GRCm39)	missense	probably damaging	1.00
R7659:Zfp975	UTSW	7	42,311,848 (GRCm39)	missense	probably benign	0.00
R7999:Zfp975	UTSW	7	42,312,356 (GRCm39)	missense	probably benign	0.02
R8676:Zfp975	UTSW	7	42,312,264 (GRCm39)	missense	probably benign	0.44
R8957:Zfp975	UTSW	7	42,311,157 (GRCm39)	missense	probably damaging	1.00
R9274:Zfp975	UTSW	7	42,312,299 (GRCm39)	missense	probably benign	0.02
R9326:Zfp975	UTSW	7	42,311,837 (GRCm39)	nonsense	probably null
R9536:Zfp975	UTSW	7	42,312,345 (GRCm39)	missense	probably benign	0.11
R9569:Zfp975	UTSW	7	42,311,413 (GRCm39)	missense	probably benign	0.00
R9717:Zfp975	UTSW	7	42,312,332 (GRCm39)	missense	possibly damaging	0.50

Posted On

2014-05-07