Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Zfp790'

471050

Institutional Source

Beutler Lab

Gene Symbol

Zfp790

Ensembl Gene

ENSMUSG00000011427

Gene Name

zinc finger protein 790

Synonyms

6330581L23Rik

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29515539-29530430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29528929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 538 (G538V)

Ref Sequence

ENSEMBL: ENSMUSP00000136932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032796] [ENSMUST00000108223] [ENSMUST00000178162]

AlphaFold

Q80ZX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032796
AA Change: G538V

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

SMART Domains

Protein: ENSMUSP00000032796
Gene: ENSMUSG00000011427
AA Change: G538V

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
Pfam:zf-C2H2_6	391	403	2.4e-1	PFAM
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108223

SMART Domains

Protein: ENSMUSP00000103858
Gene: ENSMUSG00000050855

Domain	Start	End	E-Value	Type
KRAB	6	67	2.42e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178162
AA Change: G538V

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

SMART Domains

Protein: ENSMUSP00000136932
Gene: ENSMUSG00000011427
AA Change: G538V

Domain	Start	End	E-Value	Type
KRAB	5	65	3e-27	SMART
ZnF_C2H2	224	246	2.95e-3	SMART
ZnF_C2H2	252	274	2.53e-2	SMART
ZnF_C2H2	280	302	5.5e-3	SMART
ZnF_C2H2	308	330	2.75e-3	SMART
ZnF_C2H2	336	358	2.12e-4	SMART
ZnF_C2H2	364	386	1.03e-2	SMART
ZnF_C2H2	448	470	9.56e1	SMART
ZnF_C2H2	476	498	7.26e-3	SMART
ZnF_C2H2	504	526	2.57e-3	SMART
ZnF_C2H2	532	554	6.42e-4	SMART
ZnF_C2H2	640	662	1.12e-3	SMART
ZnF_C2H2	668	690	2.12e-4	SMART
ZnF_C2H2	696	718	1.98e-4	SMART

Meta Mutation Damage Score

0.2996

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
Armc5	A	G	7: 127,841,444 (GRCm39)	E484G	probably benign	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,617,943 (GRCm39)	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Hsd3b2	T	A	3: 98,618,875 (GRCm39)	I357F	probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,661,436 (GRCm39)		probably benign	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Uncx	C	T	5: 139,533,384 (GRCm39)	S483L	probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het

Other mutations in Zfp790

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Zfp790	APN	7	29,527,988 (GRCm39)	missense	probably benign	0.32
IGL00979:Zfp790	APN	7	29,529,034 (GRCm39)	missense	probably benign	0.00
IGL02286:Zfp790	APN	7	29,529,160 (GRCm39)	missense	possibly damaging	0.53
IGL03136:Zfp790	APN	7	29,529,320 (GRCm39)	nonsense	probably null
R0021:Zfp790	UTSW	7	29,525,113 (GRCm39)	unclassified	probably benign
R0077:Zfp790	UTSW	7	29,524,300 (GRCm39)	missense	probably damaging	0.98
R1477:Zfp790	UTSW	7	29,522,525 (GRCm39)	start gained	probably benign
R1572:Zfp790	UTSW	7	29,527,564 (GRCm39)	missense	probably benign	0.33
R2015:Zfp790	UTSW	7	29,528,286 (GRCm39)	missense	probably benign	0.29
R4941:Zfp790	UTSW	7	29,528,916 (GRCm39)	missense	possibly damaging	0.83
R5019:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5159:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5160:Zfp790	UTSW	7	29,529,192 (GRCm39)	missense	probably benign	0.00
R5722:Zfp790	UTSW	7	29,529,514 (GRCm39)	nonsense	probably null
R6025:Zfp790	UTSW	7	29,528,970 (GRCm39)	missense	possibly damaging	0.71
R6312:Zfp790	UTSW	7	29,527,647 (GRCm39)	missense	probably damaging	1.00
R7392:Zfp790	UTSW	7	29,528,050 (GRCm39)	missense	possibly damaging	0.52
R7623:Zfp790	UTSW	7	29,525,130 (GRCm39)	nonsense	probably null
R8036:Zfp790	UTSW	7	29,528,346 (GRCm39)	missense	possibly damaging	0.92
R8175:Zfp790	UTSW	7	29,529,205 (GRCm39)	missense	possibly damaging	0.96
R8898:Zfp790	UTSW	7	29,522,525 (GRCm39)	start gained	probably benign
R8988:Zfp790	UTSW	7	29,527,593 (GRCm39)	missense	probably benign
R9176:Zfp790	UTSW	7	29,529,387 (GRCm39)	missense	probably benign	0.04
R9404:Zfp790	UTSW	7	29,525,185 (GRCm39)	missense	probably benign
R9519:Zfp790	UTSW	7	29,522,567 (GRCm39)	missense	unknown
Z1186:Zfp790	UTSW	7	29,529,109 (GRCm39)	missense	possibly damaging	0.53
Z1186:Zfp790	UTSW	7	29,529,258 (GRCm39)	missense	possibly damaging	0.92
Z1186:Zfp790	UTSW	7	29,529,208 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GCGCTCCATCGTTAGTAGTC -3'
(R):5'- CTTAGCAGCCTGGAGTTGAGTC -3'

Sequencing Primer
(F):5'- TTAAATGTAAGGACTGTGAAAAGGCC -3'
(R):5'- AGTCCGCTCTGGGTCATGAAG -3'

Posted On

2017-03-31