Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Zscan29'

602483

Institutional Source

Beutler Lab

Gene Symbol

Zscan29

Ensembl Gene

ENSMUSG00000050619

Gene Name

zinc finger SCAN domains 29

Synonyms

Zfp690

Accession Numbers

Essential gene?

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

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120988754-121001606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120994477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 503 (N503D)

Ref Sequence

ENSEMBL: ENSMUSP00000125987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079024] [ENSMUST00000110661] [ENSMUST00000146243] [ENSMUST00000163766]

AlphaFold

E9Q5B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079024
AA Change: N468D

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
AA Change: N468D

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

possibly damaging
Transcript: ENSMUST00000110661
AA Change: N468D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
AA Change: N468D

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

possibly damaging
Transcript: ENSMUST00000163766
AA Change: N503D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
AA Change: N503D

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,891,311 (GRCm39)		probably benign	Het
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Cherp	GACCTGGA	G	8: 73,215,893 (GRCm39)		probably null	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hecw1	C	A	13: 14,472,009 (GRCm39)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,713,756 (GRCm39)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Matn3	T	A	12: 9,008,797 (GRCm39)	D303E	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		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
R8787:Zscan29	UTSW	2	120,996,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGGTTATAACAGCCTCTGG -3'
(R):5'- GACTTACCTTGCAATTCTCAGTG -3'

Sequencing Primer
(F):5'- CCTCTGGAGGTATTTCAGTATCATC -3'
(R):5'- CTCAGTGAGACTCAGTTCTACGAAG -3'

Posted On

2019-12-04