Incidental Mutation 'R5232:Zfp541'
ID 398609
Institutional Source Beutler Lab
Gene Symbol Zfp541
Ensembl Gene ENSMUSG00000078796
Gene Name zinc finger protein 541
Synonyms EG666528
MMRRC Submission 042804-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.750) question?
Stock # R5232 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15795739-15830259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15829104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1152 (Y1152C)
Ref Sequence ENSEMBL: ENSMUSP00000148143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006181] [ENSMUST00000108509] [ENSMUST00000127637] [ENSMUST00000209369] [ENSMUST00000210805]
AlphaFold Q0GGX2
Predicted Effect probably benign
Transcript: ENSMUST00000006181
SMART Domains Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024

DomainStartEndE-ValueType
Pfam:SNAP 8 288 4.5e-113 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108509
AA Change: Y1213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
AA Change: Y1213C

DomainStartEndE-ValueType
low complexity region 48 65 N/A INTRINSIC
ZnF_C2H2 140 162 2.24e-3 SMART
ZnF_C2H2 168 190 4.47e-3 SMART
ZnF_C2H2 196 221 2.36e-2 SMART
low complexity region 249 260 N/A INTRINSIC
low complexity region 362 374 N/A INTRINSIC
low complexity region 444 465 N/A INTRINSIC
low complexity region 473 484 N/A INTRINSIC
low complexity region 594 609 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
ZnF_C2H2 838 860 3.72e0 SMART
low complexity region 953 958 N/A INTRINSIC
ELM2 1065 1122 4.46e-14 SMART
SANT 1171 1219 8.38e-7 SMART
low complexity region 1252 1263 N/A INTRINSIC
ZnF_C2H2 1301 1323 1.01e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124563
Predicted Effect probably benign
Transcript: ENSMUST00000127637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132828
Predicted Effect probably damaging
Transcript: ENSMUST00000209369
AA Change: Y1213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210805
AA Change: Y1152C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,157,672 (GRCm39) E1295G probably damaging Het
Adarb2 C A 13: 8,763,676 (GRCm39) H524Q possibly damaging Het
Arhgap26 A G 18: 39,126,529 (GRCm39) M1V probably null Het
Atp10b G A 11: 43,093,006 (GRCm39) R447H probably damaging Het
B4galnt3 T A 6: 120,209,949 (GRCm39) Y58F probably damaging Het
Cdca7l A G 12: 117,833,820 (GRCm39) E79G probably damaging Het
Chd4 C G 6: 125,098,273 (GRCm39) P350A probably damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Cubn A T 2: 13,483,013 (GRCm39) C244* probably null Het
Cyfip2 A G 11: 46,133,205 (GRCm39) S832P probably damaging Het
Dnaaf1 A C 8: 120,317,329 (GRCm39) E286A probably benign Het
Emilin1 A G 5: 31,074,323 (GRCm39) K188R probably benign Het
Fstl5 T C 3: 76,052,284 (GRCm39) W5R possibly damaging Het
Gm5565 T A 5: 146,096,947 (GRCm39) Y64F possibly damaging Het
Golga4 G A 9: 118,335,626 (GRCm39) probably null Het
Hmcn2 T C 2: 31,347,760 (GRCm39) L4802P probably damaging Het
Hnrnpll C T 17: 80,346,107 (GRCm39) V385I probably damaging Het
Kctd9 A T 14: 67,962,110 (GRCm39) D51V probably damaging Het
Lcn9 T C 2: 25,714,067 (GRCm39) probably null Het
Map1a C A 2: 121,132,466 (GRCm39) P856H probably damaging Het
Myo5b G C 18: 74,848,003 (GRCm39) E1080D probably damaging Het
Naglu T C 11: 100,960,976 (GRCm39) I9T probably benign Het
Ndst3 A T 3: 123,465,888 (GRCm39) I28N probably damaging Het
Olfm4 A G 14: 80,259,122 (GRCm39) N424D probably damaging Het
Or11g26 T A 14: 50,753,495 (GRCm39) V278E probably damaging Het
Or4n5 A G 14: 50,133,155 (GRCm39) Y35H probably damaging Het
Phf13 T C 4: 152,076,680 (GRCm39) T171A probably damaging Het
Plk3 A G 4: 116,986,317 (GRCm39) V605A probably benign Het
Polr3a A T 14: 24,503,279 (GRCm39) M1185K probably benign Het
Pramel7 A T 2: 87,320,320 (GRCm39) H324Q probably damaging Het
Prpf4b T A 13: 35,067,573 (GRCm39) probably benign Het
Pxdn C T 12: 30,040,987 (GRCm39) T421I probably benign Het
Sertad2 C T 11: 20,598,344 (GRCm39) T180I possibly damaging Het
Sgo2b C A 8: 64,381,636 (GRCm39) A399S possibly damaging Het
Skint5 T C 4: 113,434,841 (GRCm39) K1043E unknown Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Spock3 T C 8: 63,798,843 (GRCm39) F288S probably damaging Het
Srgap1 T C 10: 121,676,816 (GRCm39) I393V probably benign Het
Taf6 T C 5: 138,178,214 (GRCm39) K429R possibly damaging Het
Vav1 T C 17: 57,610,846 (GRCm39) F447L possibly damaging Het
Vmn2r19 T C 6: 123,312,916 (GRCm39) M662T probably benign Het
Other mutations in Zfp541
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:Zfp541 APN 7 15,813,393 (GRCm39) missense possibly damaging 0.80
IGL02262:Zfp541 APN 7 15,813,620 (GRCm39) missense probably damaging 1.00
IGL02347:Zfp541 APN 7 15,817,390 (GRCm39) missense probably damaging 1.00
IGL02516:Zfp541 APN 7 15,816,918 (GRCm39) splice site probably null
R0101:Zfp541 UTSW 7 15,811,968 (GRCm39) missense probably damaging 1.00
R0412:Zfp541 UTSW 7 15,816,099 (GRCm39) missense possibly damaging 0.88
R0627:Zfp541 UTSW 7 15,829,607 (GRCm39) splice site probably benign
R0784:Zfp541 UTSW 7 15,816,917 (GRCm39) intron probably benign
R1083:Zfp541 UTSW 7 15,812,637 (GRCm39) missense probably benign 0.16
R1541:Zfp541 UTSW 7 15,812,437 (GRCm39) missense probably benign 0.04
R1575:Zfp541 UTSW 7 15,812,640 (GRCm39) missense possibly damaging 0.94
R1730:Zfp541 UTSW 7 15,811,898 (GRCm39) missense probably damaging 0.99
R1783:Zfp541 UTSW 7 15,811,898 (GRCm39) missense probably damaging 0.99
R1966:Zfp541 UTSW 7 15,812,996 (GRCm39) missense probably benign 0.02
R2022:Zfp541 UTSW 7 15,816,110 (GRCm39) missense probably damaging 1.00
R2048:Zfp541 UTSW 7 15,812,252 (GRCm39) missense possibly damaging 0.94
R2436:Zfp541 UTSW 7 15,810,373 (GRCm39) missense possibly damaging 0.94
R3973:Zfp541 UTSW 7 15,806,147 (GRCm39) missense probably damaging 1.00
R4081:Zfp541 UTSW 7 15,806,060 (GRCm39) missense probably benign 0.16
R4589:Zfp541 UTSW 7 15,817,261 (GRCm39) missense probably benign 0.35
R4724:Zfp541 UTSW 7 15,815,612 (GRCm39) missense probably damaging 0.99
R4812:Zfp541 UTSW 7 15,813,035 (GRCm39) missense probably benign 0.01
R4817:Zfp541 UTSW 7 15,824,307 (GRCm39) missense probably damaging 1.00
R5331:Zfp541 UTSW 7 15,829,683 (GRCm39) missense probably damaging 1.00
R5551:Zfp541 UTSW 7 15,824,786 (GRCm39) missense probably damaging 1.00
R5976:Zfp541 UTSW 7 15,810,344 (GRCm39) missense probably benign 0.34
R6259:Zfp541 UTSW 7 15,829,451 (GRCm39) missense probably benign 0.02
R6523:Zfp541 UTSW 7 15,829,445 (GRCm39) missense probably damaging 1.00
R6826:Zfp541 UTSW 7 15,812,907 (GRCm39) missense probably damaging 0.96
R7319:Zfp541 UTSW 7 15,813,294 (GRCm39) missense probably benign 0.21
R7428:Zfp541 UTSW 7 15,826,793 (GRCm39) missense probably damaging 1.00
R7594:Zfp541 UTSW 7 15,810,311 (GRCm39) missense probably damaging 0.96
R7724:Zfp541 UTSW 7 15,805,919 (GRCm39) missense probably damaging 1.00
R8276:Zfp541 UTSW 7 15,813,009 (GRCm39) missense possibly damaging 0.87
R8433:Zfp541 UTSW 7 15,805,999 (GRCm39) missense probably benign 0.16
R9068:Zfp541 UTSW 7 15,812,376 (GRCm39) missense probably damaging 0.96
R9086:Zfp541 UTSW 7 15,824,329 (GRCm39) missense probably damaging 1.00
R9132:Zfp541 UTSW 7 15,816,966 (GRCm39) missense probably benign 0.45
R9261:Zfp541 UTSW 7 15,816,029 (GRCm39) missense possibly damaging 0.94
R9408:Zfp541 UTSW 7 15,806,139 (GRCm39) missense probably damaging 1.00
R9518:Zfp541 UTSW 7 15,813,036 (GRCm39) missense possibly damaging 0.80
R9621:Zfp541 UTSW 7 15,805,892 (GRCm39) missense possibly damaging 0.94
Z1088:Zfp541 UTSW 7 15,813,720 (GRCm39) missense probably benign 0.16
Z1176:Zfp541 UTSW 7 15,812,191 (GRCm39) missense probably damaging 1.00
Z1177:Zfp541 UTSW 7 15,816,092 (GRCm39) missense probably damaging 0.98
Z1177:Zfp541 UTSW 7 15,812,954 (GRCm39) missense probably benign 0.26
Z1177:Zfp541 UTSW 7 15,812,688 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGACTTAGTGCTGATGGC -3'
(R):5'- GAAACCTTCCCTTGAGAGCCTC -3'

Sequencing Primer
(F):5'- ATGGCTACTGTGTGGCTTCAC -3'
(R):5'- CCACCACCCTCTGACTGG -3'
Posted On 2016-07-06