Mutagenetix > Incidental Mutation

Incidental Mutation 'R7393:Zfp101'

573626

Institutional Source

Beutler Lab

Gene Symbol

Zfp101

Ensembl Gene

ENSMUSG00000055240

Gene Name

zinc finger protein 101

Synonyms

MMRRC Submission

045475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33599148-33613593 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33605674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 45 (N45D)

Ref Sequence

ENSEMBL: ENSMUSP00000132508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167107] [ENSMUST00000174417] [ENSMUST00000174512]

AlphaFold

Q8BP18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167107
AA Change: N45D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132508
Gene: ENSMUSG00000055240
AA Change: N45D

Domain	Start	End	E-Value	Type
KRAB	10	62	9.34e-15	SMART
ZnF_C2H2	219	241	2.57e-3	SMART
ZnF_C2H2	247	269	6.32e-3	SMART
ZnF_C2H2	275	297	3.16e-3	SMART
ZnF_C2H2	302	322	1.65e2	SMART
ZnF_C2H2	330	352	6.75e0	SMART
ZnF_C2H2	358	380	2.75e-3	SMART
ZnF_C2H2	386	408	4.47e-3	SMART
ZnF_C2H2	414	436	2.09e-3	SMART
ZnF_C2H2	442	464	4.79e-3	SMART
ZnF_C2H2	470	492	2.2e-2	SMART
ZnF_C2H2	498	520	4.47e-3	SMART
ZnF_C2H2	526	548	4.72e-2	SMART
ZnF_C2H2	554	576	1.28e-3	SMART
ZnF_C2H2	583	605	5.06e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174417
AA Change: N7D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134459
Gene: ENSMUSG00000055240
AA Change: N7D

Domain	Start	End	E-Value	Type
Blast:KRAB	1	38	5e-16	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174512
AA Change: N45D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133873
Gene: ENSMUSG00000055240
AA Change: N45D

Domain	Start	End	E-Value	Type
KRAB	10	62	9.34e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abi2	T	C	1: 60,473,541 (GRCm39)	M86T	possibly damaging	Het
Adam26a	T	C	8: 44,022,725 (GRCm39)	N255S	probably benign	Het
Adam4	G	A	12: 81,466,434 (GRCm39)	S729L	probably benign	Het
Adcy1	G	T	11: 7,087,381 (GRCm39)	W418C	probably damaging	Het
Add2	T	A	6: 86,075,629 (GRCm39)	Y259*	probably null	Het
Agl	A	T	3: 116,584,805 (GRCm39)	C172S	probably benign	Het
Ankfy1	A	G	11: 72,629,134 (GRCm39)	T319A	possibly damaging	Het
Armc8	A	T	9: 99,366,052 (GRCm39)	C621S	possibly damaging	Het
Atp5mj	A	G	12: 111,929,711 (GRCm39)	V26A	probably benign	Het
Bbc3	A	G	7: 16,047,714 (GRCm39)	D146G	probably benign	Het
Btnl10	T	C	11: 58,814,532 (GRCm39)	L404P	probably damaging	Het
Cbl	A	G	9: 44,065,485 (GRCm39)		probably null	Het
Ccdc170	T	A	10: 4,464,314 (GRCm39)		probably null	Het
Ccdc91	T	A	6: 147,435,527 (GRCm39)	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,937,045 (GRCm39)	T343K	probably benign	Het
Chfr	T	A	5: 110,300,224 (GRCm39)	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,136,756 (GRCm39)	M370L	probably benign	Het
Col11a1	A	G	3: 113,890,755 (GRCm39)	D364G	unknown	Het
Ctbp2	A	G	7: 132,590,021 (GRCm39)	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,099,393 (GRCm39)	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,280,354 (GRCm39)	D382G	probably benign	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam234a	T	C	17: 26,435,598 (GRCm39)	D262G	probably benign	Het
Fnbp4	C	A	2: 90,609,660 (GRCm39)	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,475,443 (GRCm39)	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,694,698 (GRCm39)	T172S	unknown	Het
Hamp2	A	T	7: 30,622,030 (GRCm39)	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,308,314 (GRCm39)	D246G	probably damaging	Het
Kctd20	T	C	17: 29,182,312 (GRCm39)	F209L	probably damaging	Het
Klra2	T	C	6: 131,207,165 (GRCm39)	Y148C	probably damaging	Het
Krtap15-1	T	C	16: 88,625,985 (GRCm39)		probably null	Het
Mrps23	T	C	11: 88,095,284 (GRCm39)	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo7a	G	A	7: 97,712,906 (GRCm39)	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,443,493 (GRCm39)	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177 (GRCm39)	M122K	probably benign	Het
Nop2	C	A	6: 125,110,509 (GRCm39)	S45*	probably null	Het
Nop56	T	A	2: 130,116,558 (GRCm39)	L3Q	probably benign	Het
Nrp2	T	C	1: 62,784,583 (GRCm39)	I244T	probably damaging	Het
Or4d10c	T	A	19: 12,065,992 (GRCm39)	T55S	probably benign	Het
Or51v14	A	G	7: 103,261,198 (GRCm39)	S121P	possibly damaging	Het
Otof	T	C	5: 30,527,614 (GRCm39)	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,830,712 (GRCm39)	K387E	probably benign	Het
Plcg2	A	G	8: 118,306,564 (GRCm39)	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,805,188 (GRCm39)	P333S	probably damaging	Het
Rcc2	A	G	4: 140,444,341 (GRCm39)	D344G	probably damaging	Het
Reln	A	T	5: 22,181,349 (GRCm39)	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,151,149 (GRCm39)	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scg2	T	C	1: 79,412,948 (GRCm39)	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,667,872 (GRCm39)	I190V	probably benign	Het
Sele	C	A	1: 163,881,492 (GRCm39)	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,072,170 (GRCm39)	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,841,093 (GRCm39)	S106P	probably benign	Het
Spidr	C	T	16: 15,964,695 (GRCm39)		probably benign	Het
Stk36	A	T	1: 74,650,352 (GRCm39)	K295*	probably null	Het
Synj1	A	T	16: 90,748,887 (GRCm39)	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,210 (GRCm39)	S1046P	probably benign	Het
Ttc27	T	G	17: 75,077,259 (GRCm39)	F385V	possibly damaging	Het
Ttn	C	A	2: 76,774,689 (GRCm39)	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764 (GRCm39)	L326*	probably null	Het
Ubr4	A	G	4: 139,154,096 (GRCm39)	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,570,778 (GRCm39)	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,574 (GRCm39)	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,605,099 (GRCm39)	I137M	probably benign	Het
Vmn2r67	A	T	7: 84,805,086 (GRCm39)	W9R	probably null	Het

Other mutations in Zfp101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0189:Zfp101	UTSW	17	33,601,213 (GRCm39)	missense	possibly damaging	0.53
R0254:Zfp101	UTSW	17	33,599,952 (GRCm39)	missense	possibly damaging	0.71
R0448:Zfp101	UTSW	17	33,601,295 (GRCm39)	missense	possibly damaging	0.73
R0696:Zfp101	UTSW	17	33,600,401 (GRCm39)	missense	possibly damaging	0.86
R0834:Zfp101	UTSW	17	33,601,418 (GRCm39)	missense	probably benign	0.33
R2000:Zfp101	UTSW	17	33,600,491 (GRCm39)	missense	possibly damaging	0.92
R2366:Zfp101	UTSW	17	33,599,972 (GRCm39)	missense	probably benign	0.06
R2471:Zfp101	UTSW	17	33,599,950 (GRCm39)	missense	possibly damaging	0.85
R3713:Zfp101	UTSW	17	33,600,880 (GRCm39)	missense	probably benign	0.05
R3857:Zfp101	UTSW	17	33,601,405 (GRCm39)	nonsense	probably null
R4537:Zfp101	UTSW	17	33,601,466 (GRCm39)	missense	possibly damaging	0.87
R4712:Zfp101	UTSW	17	33,613,457 (GRCm39)	splice site	probably null
R5049:Zfp101	UTSW	17	33,600,872 (GRCm39)	missense	possibly damaging	0.71
R5241:Zfp101	UTSW	17	33,601,210 (GRCm39)	missense	probably benign
R5499:Zfp101	UTSW	17	33,601,318 (GRCm39)	missense	probably benign	0.20
R5587:Zfp101	UTSW	17	33,600,295 (GRCm39)	missense	possibly damaging	0.71
R5694:Zfp101	UTSW	17	33,599,919 (GRCm39)	missense	probably benign
R5994:Zfp101	UTSW	17	33,599,936 (GRCm39)	missense	probably benign
R6193:Zfp101	UTSW	17	33,600,720 (GRCm39)	nonsense	probably null
R7331:Zfp101	UTSW	17	33,601,559 (GRCm39)	missense	possibly damaging	0.53
R7434:Zfp101	UTSW	17	33,600,564 (GRCm39)	missense	possibly damaging	0.86
R7922:Zfp101	UTSW	17	33,600,511 (GRCm39)	missense	possibly damaging	0.93
R8087:Zfp101	UTSW	17	33,599,977 (GRCm39)	missense	probably benign
R8684:Zfp101	UTSW	17	33,600,977 (GRCm39)	missense	possibly damaging	0.86
R9443:Zfp101	UTSW	17	33,601,418 (GRCm39)	missense	probably benign	0.33
R9581:Zfp101	UTSW	17	33,605,730 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGTGTTTTCTCTGAAAGTAAACCC -3'
(R):5'- AGAAGCTTCGGTTCTAGGTGATTC -3'

Sequencing Primer
(F):5'- TCTCTGAAAGTAAACCCAAAGAAATC -3'
(R):5'- CTAGGTGATTCTGTATACTGTCAGCC -3'

Posted On

2019-09-13