Mutagenetix > Incidental Mutation

Incidental Mutation 'R8469:Zfp940'

656946

Institutional Source

Beutler Lab

Gene Symbol

Zfp940

Ensembl Gene

ENSMUSG00000050855

Gene Name

zinc finger protein 940

Synonyms

BC027344

MMRRC Submission

067913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29533943-29553101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29544572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 445 (I445T)

Ref Sequence

ENSEMBL: ENSMUSP00000082947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085792] [ENSMUST00000108223]

AlphaFold

Q8R2Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085792
AA Change: I445T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082947
Gene: ENSMUSG00000050855
AA Change: I445T

Domain	Start	End	E-Value	Type
KRAB	6	66	1.05e-31	SMART
ZnF_C2H2	251	273	3.69e-4	SMART
ZnF_C2H2	279	301	5.5e-3	SMART
ZnF_C2H2	307	329	7.67e-2	SMART
ZnF_C2H2	340	362	2.71e-2	SMART
ZnF_C2H2	368	390	5.34e-1	SMART
ZnF_C2H2	396	418	1.38e-3	SMART
ZnF_C2H2	424	446	3.39e-3	SMART
ZnF_C2H2	452	474	6.78e-3	SMART
ZnF_C2H2	485	507	4.79e-3	SMART
ZnF_C2H2	513	535	2.24e-3	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

Coding Region Coverage

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

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,797 (GRCm39)	F113S	probably damaging	Het
Abcd4	A	G	12: 84,659,190 (GRCm39)	Y189H	probably damaging	Het
Actn1	T	C	12: 80,240,457 (GRCm39)	D210G	possibly damaging	Het
Adam28	C	T	14: 68,844,029 (GRCm39)	V774I	probably benign	Het
Anapc1	A	T	2: 128,500,264 (GRCm39)		probably null	Het
Atg2b	A	T	12: 105,604,170 (GRCm39)	I1577N	probably benign	Het
Bod1l	A	G	5: 41,978,834 (GRCm39)	S827P	possibly damaging	Het
Carmil1	A	T	13: 24,296,011 (GRCm39)	C377S	probably damaging	Het
Cplx4	T	C	18: 66,090,083 (GRCm39)	E112G	possibly damaging	Het
Cyp4f39	C	A	17: 32,711,340 (GRCm39)	R496S	probably damaging	Het
Dmgdh	G	A	13: 93,843,175 (GRCm39)	R337Q	probably damaging	Het
Dnah10	T	C	5: 124,813,895 (GRCm39)	F345S	probably damaging	Het
Dst	A	G	1: 34,268,109 (GRCm39)	R2844G	probably damaging	Het
Fam186a	T	A	15: 99,845,186 (GRCm39)	I353L	unknown	Het
Fam78a	A	G	2: 31,959,345 (GRCm39)	V255A	possibly damaging	Het
Ino80	T	A	2: 119,210,074 (GRCm39)	I1406L	probably benign	Het
Itga11	T	C	9: 62,678,680 (GRCm39)	F949S	probably benign	Het
Jmjd7	G	A	2: 119,860,643 (GRCm39)	A57T	possibly damaging	Het
Krt1c	T	C	15: 101,724,804 (GRCm39)	T269A	probably benign	Het
Lgi4	A	T	7: 30,767,065 (GRCm39)	D364V	probably damaging	Het
Lrp12	T	C	15: 39,735,791 (GRCm39)	T733A	probably damaging	Het
Marchf7	T	A	2: 60,064,670 (GRCm39)	N315K	probably benign	Het
Methig1	A	G	15: 100,251,130 (GRCm39)	I14V	probably benign	Het
Mtmr3	A	T	11: 4,481,223 (GRCm39)	M1K	probably null	Het
Nras	A	G	3: 102,966,217 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,425,366 (GRCm39)	T1508A	possibly damaging	Het
Obscn	T	C	11: 59,019,063 (GRCm39)	T917A	probably damaging	Het
Pard6g	T	C	18: 80,090,347 (GRCm39)	V21A	possibly damaging	Het
Pcdha5	T	A	18: 37,094,798 (GRCm39)	W436R	probably benign	Het
Pde4d	T	C	13: 108,996,722 (GRCm39)	V8A	probably benign	Het
Pou4f3	C	T	18: 42,528,339 (GRCm39)	T94M	probably benign	Het
Prdm6	G	T	18: 53,597,758 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,198 (GRCm39)	R674G	probably damaging	Het
Rcc1	A	G	4: 132,061,445 (GRCm39)	S368P	probably damaging	Het
Rcn2	T	A	9: 55,952,485 (GRCm39)	V110E	probably benign	Het
Reep4	T	A	14: 70,783,180 (GRCm39)		probably null	Het
Rrbp1	T	C	2: 143,831,661 (GRCm39)	I169V	probably damaging	Het
Slc2a6	T	C	2: 26,914,347 (GRCm39)	S257G	probably benign	Het
Spag9	A	G	11: 93,982,627 (GRCm39)	R612G	probably damaging	Het
Ssh2	A	G	11: 77,340,434 (GRCm39)	T529A	probably benign	Het
Triobp	A	G	15: 78,851,219 (GRCm39)	S458G	probably benign	Het
Zfp729a	G	T	13: 67,769,481 (GRCm39)	H249Q	probably damaging	Het

Other mutations in Zfp940

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Zfp940	APN	7	29,546,295 (GRCm39)	missense	probably damaging	1.00
IGL02092:Zfp940	APN	7	29,545,626 (GRCm39)	missense	probably benign
IGL02498:Zfp940	APN	7	29,546,376 (GRCm39)	missense	probably damaging	0.97
R0503:Zfp940	UTSW	7	29,545,445 (GRCm39)	intron	probably benign
R0614:Zfp940	UTSW	7	29,545,671 (GRCm39)	missense	probably benign	0.03
R1604:Zfp940	UTSW	7	29,545,500 (GRCm39)	missense	probably benign
R1619:Zfp940	UTSW	7	29,544,962 (GRCm39)	missense	possibly damaging	0.85
R1715:Zfp940	UTSW	7	29,544,363 (GRCm39)	missense	probably damaging	0.96
R1749:Zfp940	UTSW	7	29,544,952 (GRCm39)	nonsense	probably null
R1862:Zfp940	UTSW	7	29,544,435 (GRCm39)	missense	probably damaging	1.00
R4017:Zfp940	UTSW	7	29,545,359 (GRCm39)	missense	probably benign
R4673:Zfp940	UTSW	7	29,544,863 (GRCm39)	missense	probably benign	0.00
R4761:Zfp940	UTSW	7	29,545,578 (GRCm39)	missense	probably benign	0.12
R4890:Zfp940	UTSW	7	29,544,824 (GRCm39)	missense	probably benign	0.01
R5027:Zfp940	UTSW	7	29,550,381 (GRCm39)	utr 5 prime	probably benign
R5285:Zfp940	UTSW	7	29,545,025 (GRCm39)	missense	probably damaging	0.99
R5340:Zfp940	UTSW	7	29,544,266 (GRCm39)	missense	probably benign	0.33
R5439:Zfp940	UTSW	7	29,544,858 (GRCm39)	missense	probably benign	0.02
R5983:Zfp940	UTSW	7	29,544,477 (GRCm39)	missense	possibly damaging	0.96
R7873:Zfp940	UTSW	7	29,535,042 (GRCm39)	missense	unknown
R8035:Zfp940	UTSW	7	29,544,948 (GRCm39)	missense	probably benign	0.18
R8430:Zfp940	UTSW	7	29,544,771 (GRCm39)	missense	probably benign	0.32
Z1186:Zfp940	UTSW	7	29,545,404 (GRCm39)	missense	probably benign
Z1186:Zfp940	UTSW	7	29,545,361 (GRCm39)	missense	probably benign
Z1186:Zfp940	UTSW	7	29,535,031 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCGACTAAGATTTGAATGACAACC -3'
(R):5'- AAGATTTCGATTGTCACTCAGGTCTC -3'

Sequencing Primer
(F):5'- TTTGAATGACAACCAAAAGCCTTGC -3'
(R):5'- GGTCTCATTGATCACCAGAAAGTC -3'

Posted On

2021-01-18