Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01872:Zfp354a'

178763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp354a

Ensembl Gene

ENSMUSG00000020364

Gene Name

zinc finger protein 354A

Synonyms

Tcf17, kid1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL01872

Quality Score

Status

Chromosome

Chromosomal Location

50950084-50963626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50960164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 123 (N123I)

Ref Sequence

ENSEMBL: ENSMUSP00000104750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020628] [ENSMUST00000102766] [ENSMUST00000109119] [ENSMUST00000109122]

AlphaFold

Q61751

Predicted Effect

probably benign
Transcript: ENSMUST00000020628
AA Change: N124I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020628
Gene: ENSMUSG00000020364
AA Change: N124I

Domain	Start	End	E-Value	Type
KRAB	14	74	8.48e-36	SMART
ZnF_C2H2	184	206	1.12e-3	SMART
ZnF_C2H2	212	234	1.38e-3	SMART
ZnF_C2H2	240	262	9.73e-4	SMART
ZnF_C2H2	268	290	1.72e-4	SMART
ZnF_C2H2	321	343	1.47e-3	SMART
ZnF_C2H2	349	371	4.24e-4	SMART
ZnF_C2H2	377	399	2.79e-4	SMART
ZnF_C2H2	405	427	9.58e-3	SMART
ZnF_C2H2	433	455	2.4e-3	SMART
ZnF_C2H2	461	483	1.2e-3	SMART
ZnF_C2H2	489	511	2.99e-4	SMART
ZnF_C2H2	517	539	5.5e-3	SMART
ZnF_C2H2	545	567	9.08e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102766
AA Change: N124I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099827
Gene: ENSMUSG00000020364
AA Change: N124I

Domain	Start	End	E-Value	Type
KRAB	14	74	8.48e-36	SMART
ZnF_C2H2	184	206	1.12e-3	SMART
ZnF_C2H2	212	234	1.38e-3	SMART
ZnF_C2H2	240	262	9.73e-4	SMART
ZnF_C2H2	268	290	1.72e-4	SMART
ZnF_C2H2	321	343	1.47e-3	SMART
ZnF_C2H2	349	371	4.24e-4	SMART
ZnF_C2H2	377	399	2.79e-4	SMART
ZnF_C2H2	405	427	9.58e-3	SMART
ZnF_C2H2	433	455	2.4e-3	SMART
ZnF_C2H2	461	483	1.2e-3	SMART
ZnF_C2H2	489	511	2.99e-4	SMART
ZnF_C2H2	517	539	5.5e-3	SMART
ZnF_C2H2	545	567	9.08e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109119
AA Change: N125I

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104747
Gene: ENSMUSG00000020364
AA Change: N125I

Domain	Start	End	E-Value	Type
KRAB	14	75	1.67e-34	SMART
ZnF_C2H2	185	207	1.12e-3	SMART
ZnF_C2H2	213	235	1.38e-3	SMART
ZnF_C2H2	241	263	9.73e-4	SMART
ZnF_C2H2	269	291	1.72e-4	SMART
ZnF_C2H2	322	344	1.47e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	2.79e-4	SMART
ZnF_C2H2	406	428	9.58e-3	SMART
ZnF_C2H2	434	456	2.4e-3	SMART
ZnF_C2H2	462	484	1.2e-3	SMART
ZnF_C2H2	490	512	2.99e-4	SMART
ZnF_C2H2	518	540	5.5e-3	SMART
ZnF_C2H2	546	568	9.08e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109122
AA Change: N123I

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104750
Gene: ENSMUSG00000020364
AA Change: N123I

Domain	Start	End	E-Value	Type
KRAB	13	73	8.48e-36	SMART
ZnF_C2H2	183	205	1.12e-3	SMART
ZnF_C2H2	211	233	1.38e-3	SMART
ZnF_C2H2	239	261	9.73e-4	SMART
ZnF_C2H2	267	289	1.72e-4	SMART
ZnF_C2H2	320	342	1.47e-3	SMART
ZnF_C2H2	348	370	4.24e-4	SMART
ZnF_C2H2	376	398	2.79e-4	SMART
ZnF_C2H2	404	426	9.58e-3	SMART
ZnF_C2H2	432	454	2.4e-3	SMART
ZnF_C2H2	460	482	1.2e-3	SMART
ZnF_C2H2	488	510	2.99e-4	SMART
ZnF_C2H2	516	538	5.5e-3	SMART
ZnF_C2H2	544	566	9.08e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,120 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,437,824 (GRCm39)	S1657P	probably benign	Het
Alx4	A	G	2: 93,507,818 (GRCm39)	N371S	probably benign	Het
Cby1	T	A	15: 79,549,943 (GRCm39)	W59R	probably damaging	Het
Chmp1a	A	T	8: 123,932,976 (GRCm39)	L159Q	probably damaging	Het
Ciz1	T	C	2: 32,268,121 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,956,275 (GRCm39)	I603T	probably benign	Het
Dph1	A	C	11: 75,072,167 (GRCm39)	F220C	probably damaging	Het
Epha4	T	A	1: 77,359,676 (GRCm39)	M726L	probably benign	Het
Eps8l1	C	T	7: 4,475,295 (GRCm39)		probably benign	Het
Fbxo24	C	A	5: 137,611,987 (GRCm39)	R313L	probably damaging	Het
Fgf4	C	T	7: 144,415,995 (GRCm39)	R119*	probably null	Het
Grb10	T	C	11: 11,920,547 (GRCm39)	T24A	probably damaging	Het
Ifi27l2a	C	T	12: 103,401,719 (GRCm39)	A2V	probably damaging	Het
Ipmk	T	A	10: 71,208,706 (GRCm39)	M165K	probably damaging	Het
Kcnk2	C	T	1: 188,988,780 (GRCm39)	G266R	probably damaging	Het
Mak	A	C	13: 41,210,131 (GRCm39)	M35R	probably damaging	Het
Mlxipl	A	T	5: 135,142,545 (GRCm39)	I120F	probably damaging	Het
Nav1	A	G	1: 135,381,814 (GRCm39)	V1423A	probably damaging	Het
Olfm4	T	C	14: 80,259,368 (GRCm39)	*506Q	probably null	Het
Opn4	T	A	14: 34,319,166 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,176 (GRCm39)	L4P	possibly damaging	Het
Or52ab2	T	C	7: 102,970,179 (GRCm39)	V187A	probably benign	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Otof	G	A	5: 30,536,598 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,588,018 (GRCm39)		probably null	Het
Pik3r1	A	T	13: 101,825,625 (GRCm39)	D87E	probably benign	Het
Rbm6	A	T	9: 107,660,914 (GRCm39)	V883E	probably damaging	Het
Rptn	A	G	3: 93,304,154 (GRCm39)	S496G	probably benign	Het
Sap130	A	G	18: 31,807,473 (GRCm39)	R427G	probably damaging	Het
Slc26a4	T	C	12: 31,589,202 (GRCm39)	S415G	probably benign	Het
Slc5a1	T	C	5: 33,311,981 (GRCm39)	S458P	probably damaging	Het
Smg1	A	G	7: 117,748,167 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,431,623 (GRCm39)	V639L	probably damaging	Het
Ttn	A	G	2: 76,729,077 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps54	G	A	11: 21,256,940 (GRCm39)	A683T	probably damaging	Het
Zfpm2	T	C	15: 40,965,783 (GRCm39)	V624A	probably benign	Het

Other mutations in Zfp354a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Zfp354a	APN	11	50,960,190 (GRCm39)	missense	probably benign	0.00
IGL00518:Zfp354a	APN	11	50,961,381 (GRCm39)	missense	probably damaging	1.00
P0026:Zfp354a	UTSW	11	50,952,325 (GRCm39)	missense	probably null	0.40
R0063:Zfp354a	UTSW	11	50,960,398 (GRCm39)	missense	probably damaging	1.00
R0063:Zfp354a	UTSW	11	50,960,398 (GRCm39)	missense	probably damaging	1.00
R1013:Zfp354a	UTSW	11	50,951,677 (GRCm39)	splice site	probably benign
R1498:Zfp354a	UTSW	11	50,961,073 (GRCm39)	missense	probably damaging	1.00
R2093:Zfp354a	UTSW	11	50,960,551 (GRCm39)	missense	probably damaging	0.99
R4630:Zfp354a	UTSW	11	50,961,045 (GRCm39)	missense	probably damaging	1.00
R4691:Zfp354a	UTSW	11	50,961,064 (GRCm39)	missense	probably damaging	1.00
R5224:Zfp354a	UTSW	11	50,960,876 (GRCm39)	missense	probably damaging	1.00
R5728:Zfp354a	UTSW	11	50,961,432 (GRCm39)	missense	probably damaging	1.00
R6209:Zfp354a	UTSW	11	50,951,815 (GRCm39)	critical splice donor site	probably null
R6831:Zfp354a	UTSW	11	50,961,381 (GRCm39)	missense	probably damaging	1.00
R7206:Zfp354a	UTSW	11	50,961,073 (GRCm39)	missense	probably damaging	1.00
R7617:Zfp354a	UTSW	11	50,960,751 (GRCm39)	missense	probably benign	0.03
R7821:Zfp354a	UTSW	11	50,960,539 (GRCm39)	missense	probably damaging	1.00
R8115:Zfp354a	UTSW	11	50,960,490 (GRCm39)	missense	probably benign	0.28
R8835:Zfp354a	UTSW	11	50,960,628 (GRCm39)	nonsense	probably null
R8884:Zfp354a	UTSW	11	50,950,805 (GRCm39)	start gained	probably benign
R9157:Zfp354a	UTSW	11	50,960,788 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07