Mutagenetix > Incidental Mutation

Incidental Mutation 'R9585:Phf11b'

722771

Institutional Source

Beutler Lab

Gene Symbol

Phf11b

Ensembl Gene

ENSMUSG00000091649

Gene Name

PHD finger protein 11B

Synonyms

Gm4902

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59558413-59578800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59568704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 70 (P70T)

Ref Sequence

ENSEMBL: ENSMUSP00000127857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166121]

AlphaFold

B4XVQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000166121
AA Change: P70T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127857
Gene: ENSMUSG00000091649
AA Change: P70T

Domain	Start	End	E-Value	Type
PHD	92	143	1.55e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,199,993 (GRCm39)	D533V	possibly damaging	Het
4933411K16Rik	A	G	19: 42,041,352 (GRCm39)	E161G	probably benign	Het
Abca12	A	G	1: 71,342,745 (GRCm39)	S912P	probably damaging	Het
Abca3	G	A	17: 24,619,486 (GRCm39)	M1196I	probably benign	Het
Adprs	A	T	4: 126,211,786 (GRCm39)	D175E	probably benign	Het
Asrgl1	A	G	19: 9,090,398 (GRCm39)	L316P	probably benign	Het
Avl9	T	A	6: 56,734,299 (GRCm39)	M626K	probably damaging	Het
Birc6	A	G	17: 74,916,265 (GRCm39)	N1727S	probably damaging	Het
Casp14	G	A	10: 78,549,194 (GRCm39)	R251W	probably damaging	Het
Cfap69	A	G	5: 5,631,269 (GRCm39)	I919T	possibly damaging	Het
Cibar2	T	C	8: 120,901,450 (GRCm39)	E85G	probably null	Het
Cps1	T	A	1: 67,195,341 (GRCm39)	M254K	probably damaging	Het
Ctc1	A	G	11: 68,925,490 (GRCm39)	E1009G	probably damaging	Het
Ddx25	A	T	9: 35,455,009 (GRCm39)	Y426*	probably null	Het
Dok3	A	G	13: 55,672,057 (GRCm39)	F207S	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
Heatr4	A	T	12: 84,014,472 (GRCm39)	S588R	probably damaging	Het
Iglv3	A	G	16: 19,059,960 (GRCm39)	*123Q	probably null	Het
Igsf9b	T	C	9: 27,233,532 (GRCm39)	I344T	probably damaging	Het
Il18	T	C	9: 50,490,661 (GRCm39)	S99P	probably damaging	Het
Krt36	G	A	11: 99,994,892 (GRCm39)	L227F	probably damaging	Het
Lrriq1	A	G	10: 103,051,250 (GRCm39)	S501P	probably benign	Het
Lvrn	T	C	18: 47,011,411 (GRCm39)		probably null	Het
Myo18a	T	A	11: 77,709,495 (GRCm39)	M535K	probably benign	Het
Myocd	T	A	11: 65,095,192 (GRCm39)	S158C	probably damaging	Het
Naip6	A	T	13: 100,436,577 (GRCm39)	C649S	probably damaging	Het
Oasl2	T	C	5: 115,035,901 (GRCm39)	V59A	probably damaging	Het
Obscn	C	A	11: 58,965,831 (GRCm39)	V2942F	probably benign	Het
Or10a49	T	A	7: 108,467,552 (GRCm39)	T270S	probably benign	Het
Or5l14	T	A	2: 87,792,919 (GRCm39)	T106S	probably benign	Het
Osbpl6	A	G	2: 76,354,438 (GRCm39)	T18A	probably benign	Het
Pcf11	A	T	7: 92,311,006 (GRCm39)	D327E	probably benign	Het
Per3	G	T	4: 151,097,138 (GRCm39)	Q796K	probably benign	Het
Pex5l	T	C	3: 33,060,091 (GRCm39)	T227A	probably benign	Het
Pkd1l1	T	G	11: 8,804,390 (GRCm39)	I2184L		Het
Polr3a	A	T	14: 24,502,289 (GRCm39)	M1288K	probably damaging	Het
Pth1r	T	A	9: 110,573,847 (GRCm39)	R3S	probably benign	Het
Ptprk	C	A	10: 28,369,147 (GRCm39)	Y706*	probably null	Het
Rmi2	C	T	16: 10,703,983 (GRCm39)	T108I	probably benign	Het
Rrbp1	T	C	2: 143,799,479 (GRCm39)	N1076S	probably benign	Het
Setd3	A	C	12: 108,074,814 (GRCm39)		probably null	Het
Slc4a1	A	G	11: 102,247,915 (GRCm39)	Y360H	probably benign	Het
Sox21	A	G	14: 118,472,993 (GRCm39)	S19P	possibly damaging	Het
Speer4a2	T	C	5: 26,291,542 (GRCm39)	H88R	possibly damaging	Het
Stx18	T	A	5: 38,249,916 (GRCm39)	N76K	possibly damaging	Het
Sv2c	T	C	13: 96,122,466 (GRCm39)	T437A	probably benign	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Vps50	T	A	6: 3,600,348 (GRCm39)	S936T	probably benign	Het

Other mutations in Phf11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00560:Phf11b	APN	14	59,562,324 (GRCm39)	missense	probably damaging	1.00
IGL01116:Phf11b	APN	14	59,560,631 (GRCm39)	missense	probably benign	0.02
IGL01446:Phf11b	APN	14	59,578,740 (GRCm39)	missense	probably benign	0.02
IGL02224:Phf11b	APN	14	59,563,515 (GRCm39)	splice site	probably benign
IGL03062:Phf11b	APN	14	59,562,373 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Phf11b	UTSW	14	59,560,611 (GRCm39)	splice site	probably benign
R1795:Phf11b	UTSW	14	59,565,554 (GRCm39)	missense	probably benign	0.00
R3774:Phf11b	UTSW	14	59,563,506 (GRCm39)	missense	probably benign	0.45
R4553:Phf11b	UTSW	14	59,578,734 (GRCm39)	missense	probably benign	0.10
R5460:Phf11b	UTSW	14	59,568,713 (GRCm39)	missense	probably benign	0.01
R5620:Phf11b	UTSW	14	59,558,953 (GRCm39)	missense	probably benign	0.01
R5985:Phf11b	UTSW	14	59,559,027 (GRCm39)	missense	possibly damaging	0.52
R5990:Phf11b	UTSW	14	59,562,375 (GRCm39)	missense	possibly damaging	0.57
R6775:Phf11b	UTSW	14	59,576,094 (GRCm39)	missense	probably benign	0.14
R6836:Phf11b	UTSW	14	59,565,572 (GRCm39)	missense	possibly damaging	0.81
R7197:Phf11b	UTSW	14	59,563,507 (GRCm39)	missense	probably benign	0.06
R7953:Phf11b	UTSW	14	59,568,722 (GRCm39)	missense	probably benign	0.35
R8043:Phf11b	UTSW	14	59,568,722 (GRCm39)	missense	probably benign	0.35
R8229:Phf11b	UTSW	14	59,568,730 (GRCm39)	missense	probably damaging	1.00
R8319:Phf11b	UTSW	14	59,576,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCACACCATAGACTCTATTTTG -3'
(R):5'- TTCATCTCCTGCACAGTGGC -3'

Sequencing Primer
(F):5'- CATTTGGTGACTAGGGACCAAACTC -3'
(R):5'- CCAGTGCTCTGAGCCATTG -3'

Posted On

2022-08-09