Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Zscan29'

670685

Institutional Source

Beutler Lab

Gene Symbol

Zscan29

Ensembl Gene

ENSMUSG00000050619

Gene Name

zinc finger SCAN domains 29

Synonyms

Zfp690

MMRRC Submission

068633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120988754-121001606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120996876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 282 (Y282N)

Ref Sequence

ENSEMBL: ENSMUSP00000125987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000079024] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000110661] [ENSMUST00000146243] [ENSMUST00000163766] [ENSMUST00000186659]

AlphaFold

E9Q5B4

Predicted Effect

probably benign
Transcript: ENSMUST00000039541

SMART Domains

Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	573	2.8e-111	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079024
AA Change: Y282N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: Y282N

Domain	Start	End	E-Value	Type
SCAN	13	125	5.83e-70	SMART
Pfam:Myb_DNA-bind_4	238	323	3e-21	PFAM
Pfam:Myb_DNA-bind_4	399	484	4.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110657

SMART Domains

Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	3.1e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110658

SMART Domains

Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	4.1e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110661
AA Change: Y282N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: Y282N

Domain	Start	End	E-Value	Type
SCAN	13	125	5.83e-70	SMART
Pfam:Myb_DNA-bind_4	238	323	5.4e-21	PFAM
Pfam:Myb_DNA-bind_4	399	484	7.4e-22	PFAM
low complexity region	518	532	N/A	INTRINSIC
ZnF_C2H2	665	687	2.99e-4	SMART
ZnF_C2H2	693	715	2.75e-3	SMART
ZnF_C2H2	721	743	8.02e-5	SMART
ZnF_C2H2	749	771	1.13e-4	SMART
ZnF_C2H2	777	799	1.18e-2	SMART
ZnF_C2H2	805	827	1.33e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146243

SMART Domains

Protein: ENSMUSP00000120997
Gene: ENSMUSG00000050619

Domain	Start	End	E-Value	Type
SCAN	13	118	4.23e-58	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163766
AA Change: Y282N

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

SMART Domains

Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: Y282N

Domain	Start	End	E-Value	Type
SCAN	13	125	5.83e-70	SMART
Pfam:Myb_DNA-bind_4	238	323	5.9e-21	PFAM
Pfam:Myb_DNA-bind_4	434	519	1.3e-21	PFAM
low complexity region	553	567	N/A	INTRINSIC
ZnF_C2H2	700	722	2.99e-4	SMART
ZnF_C2H2	728	750	2.75e-3	SMART
ZnF_C2H2	756	778	8.02e-5	SMART
ZnF_C2H2	784	806	1.13e-4	SMART
ZnF_C2H2	812	834	1.18e-2	SMART
ZnF_C2H2	840	862	1.33e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186659

SMART Domains

Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	4.1e-115	PFAM

Meta Mutation Damage Score

0.0715

Coding Region Coverage

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

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Chek1	A	T	9: 36,625,033 (GRCm39)	C349*	probably null	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,833,634 (GRCm39)	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Hadh	T	A	3: 131,027,825 (GRCm39)	Y313F	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Ncf1	A	C	5: 134,254,145 (GRCm39)	Y209*	probably null	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,358,461 (GRCm39)	V2705A	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het

Other mutations in Zscan29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Zscan29	APN	2	121,000,538 (GRCm39)	missense	probably damaging	1.00
IGL01938:Zscan29	APN	2	120,996,690 (GRCm39)	missense	probably benign	0.16
IGL02220:Zscan29	APN	2	120,997,170 (GRCm39)	missense	probably damaging	0.99
IGL02370:Zscan29	APN	2	120,994,314 (GRCm39)	missense	probably benign	0.00
IGL02585:Zscan29	APN	2	120,994,357 (GRCm39)	nonsense	probably null
R0284:Zscan29	UTSW	2	120,997,214 (GRCm39)	unclassified	probably benign
R0842:Zscan29	UTSW	2	120,991,960 (GRCm39)	missense	possibly damaging	0.84
R1245:Zscan29	UTSW	2	120,996,984 (GRCm39)	missense	probably damaging	1.00
R1586:Zscan29	UTSW	2	120,991,641 (GRCm39)	missense	probably damaging	1.00
R1654:Zscan29	UTSW	2	120,995,260 (GRCm39)	missense	probably benign	0.06
R1958:Zscan29	UTSW	2	121,000,289 (GRCm39)	critical splice donor site	probably null
R2073:Zscan29	UTSW	2	120,991,336 (GRCm39)	nonsense	probably null
R2085:Zscan29	UTSW	2	121,000,427 (GRCm39)	nonsense	probably null
R2145:Zscan29	UTSW	2	121,000,587 (GRCm39)	missense	probably damaging	1.00
R2201:Zscan29	UTSW	2	120,999,883 (GRCm39)	missense	probably damaging	1.00
R2875:Zscan29	UTSW	2	120,994,581 (GRCm39)	missense	probably damaging	1.00
R2876:Zscan29	UTSW	2	120,994,581 (GRCm39)	missense	probably damaging	1.00
R3861:Zscan29	UTSW	2	120,991,212 (GRCm39)	missense	probably benign	0.01
R4244:Zscan29	UTSW	2	120,995,275 (GRCm39)	splice site	probably null
R4245:Zscan29	UTSW	2	120,995,275 (GRCm39)	splice site	probably null
R4447:Zscan29	UTSW	2	121,000,367 (GRCm39)	splice site	probably null
R4662:Zscan29	UTSW	2	120,997,096 (GRCm39)	missense	probably benign	0.26
R4757:Zscan29	UTSW	2	120,991,392 (GRCm39)	missense	possibly damaging	0.92
R4777:Zscan29	UTSW	2	120,999,805 (GRCm39)	missense	probably damaging	0.96
R4905:Zscan29	UTSW	2	120,991,864 (GRCm39)	missense	possibly damaging	0.53
R4970:Zscan29	UTSW	2	120,999,676 (GRCm39)	splice site	probably null
R5860:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R5861:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R5862:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R5916:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R5917:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R5918:Zscan29	UTSW	2	120,994,518 (GRCm39)	missense	probably damaging	1.00
R6335:Zscan29	UTSW	2	120,991,917 (GRCm39)	missense	possibly damaging	0.49
R7214:Zscan29	UTSW	2	120,999,761 (GRCm39)	nonsense	probably null
R7326:Zscan29	UTSW	2	120,991,469 (GRCm39)	missense	probably damaging	1.00
R7997:Zscan29	UTSW	2	120,991,221 (GRCm39)	missense	probably benign	0.01
RF001:Zscan29	UTSW	2	120,994,477 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CGGGTCATCACTGTCTGACC -3'
(R):5'- AGGATGTCCCAAAAGGCAAC -3'

Sequencing Primer
(F):5'- GCATCACTGCCTGCCTG -3'
(R):5'- CAGTCTATTACCATCCAAGAGAGAG -3'

Posted On

2021-04-30