Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Zfp354a'

43794

Institutional Source

Beutler Lab

Gene Symbol

Zfp354a

Ensembl Gene

ENSMUSG00000020364

Gene Name

zinc finger protein 354A

Synonyms

Tcf17, kid1

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

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

Stock #

R0063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50950084-50963626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50960398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 203 (H203L)

Ref Sequence

ENSEMBL: ENSMUSP00000104747 (fasta)

Gene Model

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

AlphaFold

Q61751

Predicted Effect

probably damaging
Transcript: ENSMUST00000020628
AA Change: H202L

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

SMART Domains

Protein: ENSMUSP00000020628
Gene: ENSMUSG00000020364
AA Change: H202L

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 damaging
Transcript: ENSMUST00000102766
AA Change: H202L

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

SMART Domains

Protein: ENSMUSP00000099827
Gene: ENSMUSG00000020364
AA Change: H202L

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 damaging
Transcript: ENSMUST00000109119
AA Change: H203L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104747
Gene: ENSMUSG00000020364
AA Change: H203L

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

probably damaging
Transcript: ENSMUST00000109122
AA Change: H201L

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

SMART Domains

Protein: ENSMUSP00000104750
Gene: ENSMUSG00000020364
AA Change: H201L

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

Meta Mutation Damage Score

0.9566

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (GRCm39)		probably null	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
IGL01872:Zfp354a	APN	11	50,960,164 (GRCm39)	missense	possibly damaging	0.59
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTGGGATGTGAATGCCTCGAC -3'
(R):5'- TTCTCCAGCATGGACCTTCTGGTG -3'

Sequencing Primer
(F):5'- TGTGAATGCCTCGACTATAGAAAG -3'
(R):5'- tctacagtgtgggttcttagatg -3'

Posted On

2013-05-29