Mutagenetix > Incidental Mutation

Incidental Mutation 'R9122:Zfp980'

692807

Institutional Source

Beutler Lab

Gene Symbol

Zfp980

Ensembl Gene

ENSMUSG00000058186

Gene Name

zinc finger protein 980

Synonyms

Gm13242

MMRRC Submission

068924-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R9122 (G1)

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

145397267-145431007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 145428834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 521 (H521P)

Ref Sequence

ENSEMBL: ENSMUSP00000101364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105738] [ENSMUST00000180014]

AlphaFold

A2A9J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105738
AA Change: H521P

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

SMART Domains

Protein: ENSMUSP00000101364
Gene: ENSMUSG00000058186
AA Change: H521P

Domain	Start	End	E-Value	Type
KRAB	28	90	1.46e-16	SMART
low complexity region	235	246	N/A	INTRINSIC
ZnF_C2H2	251	273	1.84e-4	SMART
ZnF_C2H2	279	301	3.49e-5	SMART
ZnF_C2H2	307	329	1.95e-3	SMART
ZnF_C2H2	335	357	5.67e-5	SMART
ZnF_C2H2	363	385	1.98e-4	SMART
ZnF_C2H2	391	413	1.98e-4	SMART
ZnF_C2H2	419	441	2.4e-3	SMART
ZnF_C2H2	447	469	1.22e-4	SMART
ZnF_C2H2	475	497	5.67e-5	SMART
ZnF_C2H2	503	525	1.98e-4	SMART
ZnF_C2H2	531	553	6.88e-4	SMART
ZnF_C2H2	559	581	1.58e-3	SMART
ZnF_C2H2	587	609	1.22e-4	SMART
ZnF_C2H2	615	635	1.26e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180014
AA Change: H521P

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

SMART Domains

Protein: ENSMUSP00000137589
Gene: ENSMUSG00000058186
AA Change: H521P

Domain	Start	End	E-Value	Type
KRAB	28	90	1.46e-16	SMART
low complexity region	235	246	N/A	INTRINSIC
ZnF_C2H2	251	273	1.84e-4	SMART
ZnF_C2H2	279	301	3.49e-5	SMART
ZnF_C2H2	307	329	1.95e-3	SMART
ZnF_C2H2	335	357	5.67e-5	SMART
ZnF_C2H2	363	385	1.98e-4	SMART
ZnF_C2H2	391	413	1.98e-4	SMART
ZnF_C2H2	419	441	2.4e-3	SMART
ZnF_C2H2	447	469	1.22e-4	SMART
ZnF_C2H2	475	497	5.67e-5	SMART
ZnF_C2H2	503	525	1.98e-4	SMART
ZnF_C2H2	531	553	6.88e-4	SMART
ZnF_C2H2	559	581	1.58e-3	SMART
ZnF_C2H2	587	609	1.22e-4	SMART
ZnF_C2H2	615	635	1.26e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Armh4	A	T	14: 50,011,459 (GRCm39)	Y83N	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna1d	C	A	14: 29,845,402 (GRCm39)	R611L	probably damaging	Het
Cacna1d	G	A	14: 29,852,125 (GRCm39)	T498I	probably benign	Het
Cc2d2a	T	A	5: 43,831,081 (GRCm39)	D57E	probably null	Het
Cd180	C	A	13: 102,841,517 (GRCm39)	L188M	probably damaging	Het
Chd7	A	G	4: 8,840,510 (GRCm39)	K1426R	possibly damaging	Het
Cntnap5c	A	T	17: 58,411,601 (GRCm39)	D495V	probably benign	Het
Col11a1	T	A	3: 113,907,249 (GRCm39)	M630K	unknown	Het
Cxxc1	T	G	18: 74,350,246 (GRCm39)	D4E	probably benign	Het
Ddx31	G	A	2: 28,748,753 (GRCm39)	R227Q	probably damaging	Het
Ddx60	A	G	8: 62,442,898 (GRCm39)	M1109V	probably benign	Het
Dennd5b	T	C	6: 148,908,240 (GRCm39)	T1018A		Het
Efcab3	A	T	11: 104,856,605 (GRCm39)	D3840V	unknown	Het
Ggta1	A	T	2: 35,303,336 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gpr37l1	C	T	1: 135,095,209 (GRCm39)	V12I	probably benign	Het
Grin2a	A	T	16: 9,397,186 (GRCm39)	V967E	possibly damaging	Het
H2ac25	T	C	11: 58,845,667 (GRCm39)	L35P	probably damaging	Het
Helz	A	G	11: 107,556,830 (GRCm39)	T1283A	probably benign	Het
Ints1	A	G	5: 139,745,930 (GRCm39)	M1315T	possibly damaging	Het
Klri1	T	A	6: 129,693,995 (GRCm39)	R31*	probably null	Het
Nadk	T	A	4: 155,671,275 (GRCm39)	N226K	probably benign	Het
Ncapg	T	C	5: 45,846,015 (GRCm39)	F624S	possibly damaging	Het
Nxn	A	T	11: 76,169,317 (GRCm39)	I154N	probably damaging	Het
Pclo	T	C	5: 14,729,998 (GRCm39)	V2952A	unknown	Het
Poc1a	T	C	9: 106,162,242 (GRCm39)	V89A	probably benign	Het
Pou2f2	T	A	7: 24,792,302 (GRCm39)	T518S	probably benign	Het
Pou5f1	C	T	17: 35,819,953 (GRCm39)	T7I	probably benign	Het
Prss44	T	C	9: 110,646,362 (GRCm39)	V363A	probably damaging	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Slc24a1	C	A	9: 64,834,478 (GRCm39)	M981I	probably benign	Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tle3	C	T	9: 61,314,755 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trgv1	G	A	13: 19,524,330 (GRCm39)	G18E	probably damaging	Het
Trim23	A	G	13: 104,317,681 (GRCm39)	T61A	probably benign	Het
Tshr	C	A	12: 91,478,737 (GRCm39)	H195N	probably benign	Het
Ttn	A	G	2: 76,712,151 (GRCm39)	S8202P	unknown	Het
Ufsp2	A	T	8: 46,438,441 (GRCm39)	Y248F	probably benign	Het
Vmn2r12	T	A	5: 109,240,910 (GRCm39)	I68L	probably benign	Het
Wdfy3	C	A	5: 102,091,831 (GRCm39)	V503L	probably damaging	Het
Zfp788	A	T	7: 41,299,919 (GRCm39)	K852*	probably null	Het

Other mutations in Zfp980

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Zfp980	APN	4	145,428,561 (GRCm39)	missense	probably benign	0.00
R0164:Zfp980	UTSW	4	145,428,567 (GRCm39)	missense	probably benign
R0164:Zfp980	UTSW	4	145,428,567 (GRCm39)	missense	probably benign
R1186:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R1761:Zfp980	UTSW	4	145,428,612 (GRCm39)	missense	probably damaging	1.00
R3726:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R4049:Zfp980	UTSW	4	145,429,170 (GRCm39)	missense	probably damaging	1.00
R4467:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R4610:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R4622:Zfp980	UTSW	4	145,428,627 (GRCm39)	missense	probably damaging	1.00
R4873:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R5008:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R5027:Zfp980	UTSW	4	145,428,653 (GRCm39)	missense	probably benign
R5497:Zfp980	UTSW	4	145,428,017 (GRCm39)	missense	probably damaging	1.00
R5995:Zfp980	UTSW	4	145,428,479 (GRCm39)	nonsense	probably null
R6125:Zfp980	UTSW	4	145,429,208 (GRCm39)	makesense	probably null
R7353:Zfp980	UTSW	4	145,428,714 (GRCm39)	missense	probably benign	0.06
R7675:Zfp980	UTSW	4	145,428,164 (GRCm39)	nonsense	probably null
R7939:Zfp980	UTSW	4	145,428,582 (GRCm39)	missense	probably damaging	1.00
R8833:Zfp980	UTSW	4	145,427,596 (GRCm39)	missense	probably benign	0.00
R9165:Zfp980	UTSW	4	145,428,024 (GRCm39)	missense	possibly damaging	0.95
R9361:Zfp980	UTSW	4	145,427,999 (GRCm39)	missense	probably benign	0.08
R9469:Zfp980	UTSW	4	145,427,687 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGAAACCGTACCAATGCAGTGA -3'
(R):5'- TGTAAGGTTTCTCTCCTGCATG -3'

Sequencing Primer
(F):5'- GCTTTACTGACAAAGGCAGTC -3'
(R):5'- CTCCTGCATGAATTCTATGATGAAC -3'

Posted On

2021-12-30